ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.1760A>G (p.Asn587Ser)

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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 RCV000787042 SCV000925957 uncertain significance Liddle syndrome 1 2019-03-29 criteria provided, single submitter clinical testing This SCNN1B variant (rs769244277) is rare (<0.1%) in large population datasets (gnomAD: 1/249294 total alleles; 0.0004%; no homozygotes). SCNN1B c.1760A>G has not been reported in ClinVar nor the literature, to our knowledge. Of two bioinformatics tools queried, one predicts that the substitution would be probably damaging, while the second predicts that it would be tolerated. The asparagine residue at this position is evolutionarily conserved across all species assessed, except coelacanth. Bioinformatic analysis predicts that this variant would not affect normal exon 13 splicing, although this has not been confirmed experimentally to our knowledge. This variant is outside of the SCNN1B PY motif, which is typically altered by Liddle syndrome associated variants. The clinical significance of c.1760A>G is uncertain at this time.

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