ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.1177G>A (p.Asp393Asn)

gnomAD frequency: 0.00003  dbSNP: rs886049758
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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 RCV000395493 SCV000380743 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 RCV000312398 SCV000380744 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 RCV002504070 SCV002816061 uncertain significance Autosomal recessive pseudohypoaldosteronism type 1; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2022-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002520827 SCV003545736 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.1177G>A (p.D393N) alteration is located in exon 7 (coding exon 6) of the SCNN1A gene. This alteration results from a G to A substitution at nucleotide position 1177, causing the aspartic acid (D) at amino acid position 393 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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