ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2134C>T (p.Leu712Phe) (rs794727318)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000597464 SCV000700773 likely pathogenic not provided 2016-06-30 criteria provided, single submitter clinical testing
Invitae RCV000798205 SCV000937807 pathogenic Limb-girdle muscular dystrophy, type 2A 2018-11-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 712 of the CAPN3 protein (p.Leu712Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with calpainopathy in a family (PMID: 17562833). ClinVar contains an entry for this variant (Variation ID: 195450). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic.

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