ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.305C>T (p.Pro102Leu)

dbSNP: rs886042315
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000378364 SCV000333331 uncertain significance not provided 2015-08-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000803556 SCV000943434 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-08-28 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 102 of the CAPN3 protein (p.Pro102Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in combination with a second CAPN3 variant in an individual affected with limb-girdle muscular dystrophy (PMID: 29970176). ClinVar contains an entry for this variant (Variation ID: 282117). 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"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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