ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.21734A>G (p.Asn7245Ser)

gnomAD frequency: 0.00001  dbSNP: rs751872533
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001349245 SCV001543579 uncertain significance Nemaline myopathy 2 2022-06-29 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 7280 of the NEB protein (p.Asn7280Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 1044923). 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.
Revvity Omics, Revvity RCV003132448 SCV003811568 uncertain significance not provided 2019-11-14 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV001349245 SCV001749423 not provided Nemaline myopathy 2 no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 03-05-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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