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 2023-11-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001784277 SCV002016915 pathogenic not provided 2019-07-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000672914 SCV002122336 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects CAPN3 function (PMID: 22006685). 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"). 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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