ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1350C>T (p.Phe450=)

gnomAD frequency: 0.00167  dbSNP: rs144944366
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000272201 SCV000332121 likely benign not specified 2015-06-11 criteria provided, single submitter clinical testing
GeneDx RCV001697735 SCV000526861 likely benign not provided 2019-08-16 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24109560)
Labcorp Genetics (formerly Invitae), Labcorp RCV000645006 SCV000766745 benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000645006 SCV001279775 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-01-13 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.
PreventionGenetics, part of Exact Sciences RCV004542982 SCV004794481 likely benign CAPN3-related disorder 2019-04-29 no assertion criteria provided 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).

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