ClinVar Miner

Submissions for variant NM_001291867.2(NHS):c.3829G>A (p.Val1277Ile)

dbSNP: rs2519941641
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002712483 SCV003552608 uncertain significance Inborn genetic diseases 2021-02-05 criteria provided, single submitter clinical testing The c.3766G>A (p.V1256I) alteration is located in exon 6 (coding exon 6) of the NHS gene. This alteration results from a G to A substitution at nucleotide position 3766, causing the valine (V) at amino acid position 1256 to be replaced by an isoleucine (I). Based on data from the Genome Aggregation Database (gnomAD), the NHS c.3766G>A alteration was not observed, with coverage at this position. The p.V1256 amino acid is not conserved in available vertebrate species. The p.V1256I alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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