Submissions for variant NM_000023.4(SGCA):c.270C>T (p.Tyr90=)

gnomAD frequency: 0.00004  dbSNP: rs749205073

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000726389	SCV000344327	uncertain significance	not provided	2016-08-16	criteria provided, single submitter	clinical testing
GeneDx	RCV000726389	SCV000621858	uncertain significance	not provided	2018-03-15	criteria provided, single submitter	clinical testing	The c.270 C>T variant in the SGCA gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.270 C>T variant is observed in 6/25644 (0.02%) alleles from individuals of Finnish European background in large population cohorts, and no individuals were reported to be homozygous (Lek et al., 2016). The c.270 C>T variant represents a synonymous amino acid substitution that occurs at a position that is not conserved across species. In silico prediction models predict that c.270 C>T may enhance a cryptic splice acceptor site in exon 3, and may cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. We interpret c.270 C>T as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088247	SCV000769871	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2D	2023-09-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000726389	SCV004184688	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	SGCA: BP4, BP7