ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) (rs115311625)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078094 SCV000109932 benign not specified 2012-08-23 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000078094 SCV000301879 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000078094 SCV000523001 benign not specified 2016-03-28 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.
Invitae RCV000499264 SCV000645495 benign Limb-girdle muscular dystrophy, type 2A 2019-12-31 criteria provided, single submitter clinical testing
Counsyl RCV000499264 SCV000793900 likely benign Limb-girdle muscular dystrophy, type 2A 2017-09-12 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000859376 SCV001143418 benign not provided 2018-10-29 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000499264 SCV001277664 likely benign Limb-girdle muscular dystrophy, type 2A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genetic Services Laboratory, University of Chicago RCV000078094 SCV000150496 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000499264 SCV000590902 pathogenic Limb-girdle muscular dystrophy, type 2A 2017-08-16 no assertion criteria provided clinical testing This mutation has been reported in 1000 genomes and ExAC databases with minor allele frequency of 0.9% and 0.28%. The in silico prediction of this variant is damaging by Mutation Taster2.

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