ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4027C>G (p.His1343Asp)

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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 RCV003073905 SCV003447067 uncertain significance Nemaline myopathy 2 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with aspartic acid, which is acidic and polar, at codon 1343 of the NEB protein (p.His1343Asp). This variant is not present in population databases (gnomAD 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.
Ambry Genetics RCV003073906 SCV003647442 uncertain significance Inborn genetic diseases 2022-10-26 criteria provided, single submitter clinical testing The c.4027C>G (p.H1343D) alteration is located in exon 37 (coding exon 35) of the NEB gene. This alteration results from a C to G substitution at nucleotide position 4027, causing the histidine (H) at amino acid position 1343 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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