ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.1225C>T (p.Leu409Phe)

gnomAD frequency: 0.00001  dbSNP: rs373883986
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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 RCV000544273 SCV000640516 uncertain significance Nemaline myopathy 2 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 409 of the NEB protein (p.Leu409Phe). This variant is present in population databases (rs373883986, gnomAD 0.003%). 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: 465444). 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.
GeneDx RCV001848942 SCV002104376 uncertain significance not provided 2022-02-25 criteria provided, single submitter clinical testing Not observed at a 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
Natera, Inc. RCV000544273 SCV002077833 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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