ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.7421A>G (p.Asn2474Ser)

gnomAD frequency: 0.00001  dbSNP: rs776901478
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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) RCV000259340 SCV000343293 uncertain significance not provided 2016-08-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001859691 SCV002122251 uncertain significance Nemaline myopathy 2 2021-11-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 2474 of the NEB protein (p.Asn2474Ser). This variant is present in population databases (rs776901478, gnomAD 0.002%). 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: 289022). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a 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.
Revvity Omics, Revvity RCV000259340 SCV003810165 uncertain significance not provided 2022-06-27 criteria provided, single submitter clinical testing

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