ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.821A>G (p.Tyr274Cys)

gnomAD frequency: 0.00004  dbSNP: rs138914944
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248612 SCV001422111 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-12-05 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 274 of the CAPN3 protein (p.Tyr274Cys). This variant is present in population databases (rs138914944, gnomAD 0.03%). 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: 972553). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004601425 SCV005097164 uncertain significance Inborn genetic diseases 2024-06-11 criteria provided, single submitter clinical testing The c.821A>G (p.Y274C) alteration is located in exon 6 (coding exon 6) of the CAPN3 gene. This alteration results from a A to G substitution at nucleotide position 821, causing the tyrosine (Y) at amino acid position 274 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001248612 SCV002085482 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-08-11 no assertion criteria provided clinical testing

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