ClinVar Miner

Submissions for variant NM_000337.6(SGCD):c.768G>A (p.Thr256=)

gnomAD frequency: 0.00001  dbSNP: rs376141942
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000319690 SCV000338488 uncertain significance not provided 2016-01-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000541005 SCV000638179 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000319690 SCV000973221 likely benign not provided 2018-06-18 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV002401990 SCV002674241 likely benign Inborn genetic diseases 2020-03-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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