Submissions for variant NM_000023.4(SGCA):c.981C>T (p.Ser327=)

gnomAD frequency: 0.00013  dbSNP: rs368522117

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000413434	SCV000491801	uncertain significance	not provided	2016-11-23	criteria provided, single submitter	clinical testing	The c.981 C>T variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. This nucleotide change results in a synonymous amino acid substitution at a position that it not conserved. Multiple in-silico splice prediction models predict c.981 C>T may reduce the strength of the natural splice donor site in intron 8 and lead to abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085556	SCV001120700	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2D	2024-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001085556	SCV001806716	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2D	2021-07-22	criteria provided, single submitter	clinical testing