ClinVar Miner

Submissions for variant NM_000023.4(SGCA):c.819G>T (p.Pro273=)

gnomAD frequency: 0.00013  dbSNP: rs35972733
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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) RCV000361536 SCV000332157 uncertain significance not provided 2016-02-15 criteria provided, single submitter clinical testing
Invitae RCV001079070 SCV001091594 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2024-01-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955429 SCV004777836 likely benign SGCA-related condition 2023-08-30 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001079070 SCV001453194 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2D 2020-06-03 no assertion criteria provided clinical testing

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