ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.689A>G (p.Asp230Gly)

dbSNP: rs1555420629
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671789 SCV000796809 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-01-02 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV000671789 SCV004048543 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A criteria provided, single submitter clinical testing The missense variant c.689A>G (p.Asp230Gly) in CAPN3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Asp230Gly variant is reported is novel (not in any individuals) in gnomAD Exomes and in1000 Genomes. This variant has been reported as uncertain significance to the ClinVar database. The amino acid Asp at position 230 is changed to a Gly changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by both SIFT and PolyPhen2. The residue is conserved across species. The amino acid change p.Asp230Gly in CAPN3 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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