ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.23743G>A (p.Val7915Ile)

dbSNP: rs767404419
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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 RCV001345348 SCV001539459 uncertain significance Nemaline myopathy 2 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 7950 of the NEB protein (p.Val7950Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs767404419, ExAC 0.002%). 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 RCV003169671 SCV003893094 uncertain significance Inborn genetic diseases 2023-02-10 criteria provided, single submitter clinical testing The c.18640G>A (p.V6214I) alteration is located in exon 139 (coding exon 137) of the NEB gene. This alteration results from a G to A substitution at nucleotide position 18640, causing the valine (V) at amino acid position 6214 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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