ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr)

dbSNP: rs1555422136
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727466 SCV000708779 likely pathogenic not provided 2017-05-24 criteria provided, single submitter clinical testing
Counsyl RCV000597737 SCV000800264 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-05-29 criteria provided, single submitter clinical testing
Invitae RCV000597737 SCV003442854 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-04-24 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CAPN3 protein function. ClinVar contains an entry for this variant (Variation ID: 502152). This missense change has been observed in individual(s) with clinical features of autosomal recessive CAPN3-related conditions (PMID: 25987458). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 506 of the CAPN3 protein (p.Ile506Thr).
Baylor Genetics RCV003471964 SCV004211509 likely pathogenic Muscular dystrophy, limb-girdle, autosomal dominant 4 2023-10-25 criteria provided, single submitter clinical testing

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