ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.1361G>A (p.Gly454Glu)

dbSNP: rs72657557
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001113508 SCV001271287 uncertain significance Bronchiectasis with or without elevated sweat chloride 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV001113509 SCV001271288 uncertain significance Autosomal recessive pseudohypoaldosteronism type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Fulgent Genetics, Fulgent Genetics RCV002491358 SCV002780382 uncertain significance Autosomal recessive pseudohypoaldosteronism type 1; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2021-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV004032179 SCV004946087 uncertain significance Inborn genetic diseases 2023-11-04 criteria provided, single submitter clinical testing The c.1361G>A (p.G454E) alteration is located in exon 9 (coding exon 8) of the SCNN1A gene. This alteration results from a G to A substitution at nucleotide position 1361, causing the glycine (G) at amino acid position 454 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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