ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.664G>A (p.Gly222Arg)

gnomAD frequency: 0.00001  dbSNP: rs1345121557
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672914 SCV000798069 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-02-21 criteria provided, single submitter clinical testing
Baylor Genetics RCV001332162 SCV001524384 pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2020-02-07 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Revvity Omics, Revvity RCV001784277 SCV002016915 pathogenic not provided 2019-07-18 criteria provided, single submitter clinical testing
Invitae RCV000672914 SCV002122336 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-07-26 criteria provided, single submitter clinical testing 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 C15"). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CAPN3 function (PMID: 22006685). ClinVar contains an entry for this variant (Variation ID: 556854). This missense change has been observed in individual(s) with autosomal recessive limb-girdle muscular dystrophy (PMID: 9762961, 16542520, 22006685). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 222 of the CAPN3 protein (p.Gly222Arg).
Fulgent Genetics, Fulgent Genetics RCV002499184 SCV002812776 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2022-02-22 criteria provided, single submitter clinical testing

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