ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1557C>T (p.His519=)

gnomAD frequency: 0.00004  dbSNP: rs368385372
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192510 SCV000246845 uncertain significance not specified 2015-05-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726184 SCV000342718 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000296481 SCV000391017 uncertain significance Limb-girdle muscular dystrophy, recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000325766 SCV000391018 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 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 RCV000325766 SCV001062921 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-28 criteria provided, single submitter clinical testing
Baylor Genetics RCV000325766 SCV001524379 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-08-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Natera, Inc. RCV000325766 SCV002085525 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-08-18 no assertion criteria provided clinical testing

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