ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) (rs777483913)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725670 SCV000338494 likely pathogenic not provided 2016-01-19 criteria provided, single submitter clinical testing
Invitae RCV000345099 SCV000645466 pathogenic Limb-girdle muscular dystrophy, type 2A 2020-05-20 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 437 of the CAPN3 protein (p.Arg437Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs777483913, ExAC 0.004%). This variant has been reported as homozygous or compound heterozygous with a second deleterious allele in several individuals affected with limb girdle muscular dystrophy, type 2A (PMID: 10330340, 27081656, 16141003, 15221789, 20044116, 18854869, 18563459, 26404900). ClinVar contains an entry for this variant (Variation ID:285470). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000725670 SCV001247167 pathogenic not provided 2019-07-01 criteria provided, single submitter clinical testing
Counsyl RCV000345099 SCV000791273 likely pathogenic Limb-girdle muscular dystrophy, type 2A 2017-05-15 no assertion criteria provided clinical testing

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