Submissions for variant NM_000023.4(SGCA):c.657C>T (p.His219=)

gnomAD frequency: 0.00006  dbSNP: rs747684069

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000352432	SCV000345321	uncertain significance	not provided	2016-09-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001123793	SCV001282660	uncertain significance	Sarcoglycanopathy	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001413037	SCV001615139	likely benign	Autosomal recessive limb-girdle muscular dystrophy type 2D	2025-02-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001413037	SCV001806721	uncertain significance	Autosomal recessive limb-girdle muscular dystrophy type 2D	2021-07-22	criteria provided, single submitter	clinical testing