Submissions for variant NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)

dbSNP: rs796065318

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Baylor Genetics	RCV003474923	SCV004203199	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D	2022-10-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003474923	SCV004298282	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D	2024-05-06	criteria provided, single submitter	clinical testing	This sequence change results in a frameshift in the SGCA gene (p.Asp328Alafs*90). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 60 amino acid(s) of the SGCA protein and extend the protein by 29 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This frameshift has been observed in individual(s) with clinical features of limb girdle muscular dystrophy (PMID: 27671536; Invitae; external communication). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as c.608_609insCG. ClinVar contains an entry for this variant (Variation ID: 191294). For these reasons, this variant has been classified as Pathogenic.
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV003474923	SCV004808262	pathogenic	Autosomal recessive limb-girdle muscular dystrophy type 2D	2024-03-29	criteria provided, single submitter	clinical testing
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	RCV000171485	SCV000221684	likely pathogenic	not provided		flagged submission	research