ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.7834G>A (p.Ala2612Thr)

gnomAD frequency: 0.00001  dbSNP: rs779023599
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001319915 SCV001510679 uncertain significance Nemaline myopathy 2 2022-07-05 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2612 of the NEB protein (p.Ala2612Thr). This variant is present in population databases (rs779023599, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with NEB-related conditions. ClinVar contains an entry for this variant (Variation ID: 1020347). 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: "Not Available"; Align-GVGD: "Class C0"). 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. RCV001319915 SCV002079643 uncertain significance Nemaline myopathy 2 2021-03-10 no assertion criteria provided clinical testing

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