ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.1523G>A (p.Arg508Gln)

gnomAD frequency: 0.00005  dbSNP: rs763359949
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001804232 SCV002051800 uncertain significance Bronchiectasis with or without elevated sweat chloride 2 2021-10-20 criteria provided, single submitter clinical testing SCNN1A c.1523G>A (rs763359949) is rare (<0.1%) in a large population dataset (gnomAD: 5/251414 total alleles; 0.002%; no homozygotes) and has not been reported in ClinVar nor the literature, to our knowledge. Three bioinformatic tools queried predict that this substitution would be tolerated and the argine residue at this position is evolutionarily conserved across a subset species assessed. We consider the clinical significance of SCNN1A c.1523G>A to be uncertain at this time.
Breakthrough Genomics, Breakthrough Genomics RCV004692734 SCV005191642 uncertain significance not provided criteria provided, single submitter not provided
Ambry Genetics RCV004953073 SCV005501699 uncertain significance Inborn genetic diseases 2024-10-17 criteria provided, single submitter clinical testing The c.1523G>A (p.R508Q) alteration is located in exon 11 (coding exon 10) of the SCNN1A gene. This alteration results from a G to A substitution at nucleotide position 1523, causing the arginine (R) at amino acid position 508 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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