Submissions for variant NM_000231.3(SGCG):c.800_801del (p.Cys267fs)

dbSNP: rs780348174

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Counsyl	RCV000667789	SCV000792293	likely pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2C	2017-06-13	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001200356	SCV001371292	pathogenic	not provided	2020-06-01	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000667789	SCV002238294	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2C	2023-04-14	criteria provided, single submitter	clinical testing	ClinVar contains an entry for this variant (Variation ID: 552513). This variant is also known as ∆801–TC. This frameshift has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 8923014, 24638197). This variant is present in population databases (rs780348174, gnomAD 0.01%). This sequence change results in a frameshift in the SGCG gene (p.Cys267Serfs*51). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 25 amino acid(s) of the SGCG protein and extend the protein by 25 additional amino acid residues. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Cys283 amino acid residue in SGCG. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8968757, 22095924). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.
Baylor Genetics	RCV000667789	SCV004201044	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2C	2023-08-09	criteria provided, single submitter	clinical testing
OMIM	RCV000667789	SCV000022242	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2C	1996-11-01	no assertion criteria provided	literature only