ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.10G>A (p.Val4Ile)

gnomAD frequency: 0.00007  dbSNP: rs140660066
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548819 SCV000645462 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-09-12 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 4 of the CAPN3 protein (p.Val4Ile). This variant is present in population databases (rs140660066, gnomAD 0.04%). This missense change has been observed in individual(s) with autosomal recessive limb girdle muscular dystrophy, type 2A (PMID: 10330340). ClinVar contains an entry for this variant (Variation ID: 468640). 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.
Eurofins Ntd Llc (ga) RCV000594915 SCV000707795 uncertain significance not provided 2017-04-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483452 SCV002778262 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2022-03-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000594915 SCV003828912 uncertain significance not provided 2019-10-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000548819 SCV002094423 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-02-21 no assertion criteria provided clinical testing

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