ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.3662A>G (p.Asp1221Gly)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002618657 SCV002969037 uncertain significance Nemaline myopathy 2 2021-08-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 1221 of the NEB protein (p.Asp1221Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with NEB-related conditions. 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 RCV003130732 SCV003814109 uncertain significance not provided 2023-05-10 criteria provided, single submitter clinical testing
GeneDx RCV003130732 SCV003924574 uncertain significance not provided 2022-11-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004065920 SCV004979107 uncertain significance Inborn genetic diseases 2024-03-01 criteria provided, single submitter clinical testing The c.3662A>G (p.D1221G) alteration is located in exon 34 (coding exon 32) of the NEB gene. This alteration results from a A to G substitution at nucleotide position 3662, causing the aspartic acid (D) at amino acid position 1221 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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