ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.292G>A (p.Val98Ile)

gnomAD frequency: 0.00011  dbSNP: rs368585092
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000264665 SCV000337256 uncertain significance not provided 2015-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000644982 SCV000766712 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2024-08-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 98 of the CAPN3 protein (p.Val98Ile). This variant is present in population databases (rs368585092, gnomAD 0.03%). This missense change has been observed in individual(s) with clinical features of CAPN3-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 284578). An algorithm developed to predict the effect of missense changes on protein structure and function outputs the following: PolyPhen-2: "Benign". The isoleucine 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.
CeGaT Center for Human Genetics Tuebingen RCV000264665 SCV001149394 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480018 SCV002786483 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2022-02-26 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000264665 SCV003830567 uncertain significance not provided 2023-05-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV000644982 SCV002094437 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-01-28 no assertion criteria provided clinical testing

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