ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.1629G>A (p.Thr543=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV003447744 SCV004175434 uncertain significance Bronchiectasis with or without elevated sweat chloride 2 2022-10-14 criteria provided, single submitter clinical testing The SCNN1A c.1629G>A is a single nucleotide substitution of the last nucleotide of exon 12 (of 13) and in silico splice predictors indicate that it may affect splicing (PP3). The variant is rare in population databases (gnomAD allele frequency = 0.0013%; 2 het and 0 hom in 151392 sequenced alleles) (PM2). The variant is located in the sodium channel subunit alpha domain (PM1) in a region that is highly conserved in mammals. The variant has not been reported in the HGMD database or ClinVar.

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