ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=)

gnomAD frequency: 0.00044  dbSNP: rs147774793
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000723489 SCV000227750 uncertain significance not provided 2018-03-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000246649 SCV000301876 benign not specified criteria provided, single submitter clinical testing
Invitae RCV001085030 SCV000645488 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000723489 SCV000729916 likely benign not provided 2021-03-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32528171)
Athena Diagnostics Inc RCV000723489 SCV001143417 likely benign not provided 2019-05-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000723489 SCV001149401 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing CAPN3: BP4, BP7
Illumina Laboratory Services, Illumina RCV001085030 SCV001275951 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2017-04-28 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 did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV003242999 SCV003950243 likely benign Inborn genetic diseases 2023-06-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Natera, Inc. RCV001085030 SCV001460848 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-04-17 no assertion criteria provided clinical testing

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