Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_005839.4(SRRM1):c.1096C>T(p.Arg366Cys) variant causes a missense change. The variant allele was found at a frequency of 0.0000112 in 1,614,098 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
SRRM1 (HGNC:16638): (serine and arginine repetitive matrix 1) Enables RNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Located in nuclear speck. Part of catalytic step 2 spliceosome. Biomarker of gestational diabetes. [provided by Alliance of Genome Resources, Apr 2022]
Review Status: criteria provided, single submitter
Collection Method: clinical testing
The c.1096C>T (p.R366C) alteration is located in exon 9 (coding exon 9) of the SRRM1 gene. This alteration results from a C to T substitution at nucleotide position 1096, causing the arginine (R) at amino acid position 366 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -