ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1256A>T (p.Asp419Val)

dbSNP: rs1962882235
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001250510 SCV001425300 uncertain significance Liddle syndrome 1 2020-03-04 criteria provided, single submitter clinical testing This SCNN1B variant is absent from a large population dataset and has not been reported in ClinVar nor the literature, to our knowledge. Of three bioinformatics tools queried, two predict that the substitution would be tolerated while one predicts that it would be damaging. The aspartic acid residue at this position is evolutionarily conserved across higher order mammals. Due to insufficient evidence, we consider the clinical significance of c.1256A>T to be uncertain at this time.

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