Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_016315.4(GULP1):c.49C>T(p.Pro17Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000000725 in 1,378,726 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
GULP1 (HGNC:18649): (GULP PTB domain containing engulfment adaptor 1) The protein encoded by this gene is an adapter protein necessary for the engulfment of apoptotic cells by phagocytes. Several transcript variants, some protein coding and some thought not to be protein coding, have been found for this gene. [provided by RefSeq, Nov 2011]
Review Status: criteria provided, single submitter
Collection Method: clinical testing
The c.49C>T (p.P17S) alteration is located in exon 4 (coding exon 2) of the GULP1 gene. This alteration results from a C to T substitution at nucleotide position 49, causing the proline (P) at amino acid position 17 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -