ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1787A>G (p.Lys596Arg)

gnomAD frequency: 0.00009  dbSNP: rs747461807
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806589 SCV000946594 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-07-21 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 596 of the CAPN3 protein (p.Lys596Arg). This variant is present in population databases (rs747461807, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 651266). 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002478868 SCV002780394 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2021-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002534831 SCV003730071 uncertain significance Inborn genetic diseases 2022-04-07 criteria provided, single submitter clinical testing The c.1787A>G (p.K596R) alteration is located in exon 15 (coding exon 15) of the CAPN3 gene. This alteration results from a A to G substitution at nucleotide position 1787, causing the lysine (K) at amino acid position 596 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000806589 SCV001454345 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-09-16 no assertion criteria provided clinical testing

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