ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.5717C>T (p.Ala1906Val)

dbSNP: rs2099170735
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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 RCV001213023 SCV001384636 uncertain significance Nemaline myopathy 2 2019-09-17 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1906 of the NEB protein (p.Ala1906Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals 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 RCV002561801 SCV003670878 uncertain significance Inborn genetic diseases 2022-12-13 criteria provided, single submitter clinical testing The c.5717C>T (p.A1906V) alteration is located in exon 45 (coding exon 43) of the NEB gene. This alteration results from a C to T substitution at nucleotide position 5717, causing the alanine (A) at amino acid position 1906 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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