ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.133G>C (p.Glu45Gln)

gnomAD frequency: 0.00001  dbSNP: rs200068111
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV003320427 SCV004024512 uncertain significance Bronchiectasis with or without elevated sweat chloride 2 2023-05-25 criteria provided, single submitter clinical testing This SCNN1A missense variant (rs200068111) is rare (<0.1%) in a large population dataset (gnomAD v2.1.1: 12/250442 total alleles; 0.005%; no homozygotes). It has not been reported in ClinVar, nor the literature, to our knowledge. Of two bioinformatics tools queried, one predicts that the substitution would be damaging, while the other predicts that it would be tolerated, but these algorithms have low specificity, especially for predicting gain of function variants. The glutamic acid residue at this position is evolutionarily conserved across many of the species assessed, but some species have a different amino acid including two species with glutamine. We consider the clinical significance of c.133G>C in SCNN1A to be uncertain at this time.
Ambry Genetics RCV004961258 SCV005501705 uncertain significance Inborn genetic diseases 2024-09-08 criteria provided, single submitter clinical testing The c.133G>C (p.E45Q) alteration is located in exon 2 (coding exon 1) of the SCNN1A gene. This alteration results from a G to C substitution at nucleotide position 133, causing the glutamic acid (E) at amino acid position 45 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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