ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.868A>T (p.Met290Leu)

gnomAD frequency: 0.00009  dbSNP: rs747399155
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000347706 SCV000339201 uncertain significance not provided 2016-02-09 criteria provided, single submitter clinical testing
Invitae RCV000822225 SCV000963017 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 290 of the CAPN3 protein (p.Met290Leu). This variant is present in population databases (rs747399155, gnomAD 0.02%). This missense change has been observed in individual(s) with clinical features of CAPN3-related conditions (PMID: 30564623). ClinVar contains an entry for this variant (Variation ID: 285964). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Natera, Inc. RCV000822225 SCV002085485 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-10-28 no assertion criteria provided clinical testing

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