ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1768G>T (p.Val590Leu)

dbSNP: rs370809015
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644978 SCV000766708 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-05-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 590 of the CAPN3 protein (p.Val590Leu). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 536511).
Natera, Inc. RCV000644978 SCV001454344 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-16 no assertion criteria provided clinical testing

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