ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.2T>C (p.Met1Thr)

gnomAD frequency: 0.00002  dbSNP: rs779394345
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000779113 SCV000915607 uncertain significance SCNN1A-related disorder 2018-10-30 criteria provided, single submitter clinical testing The SCNN1A c.2T>C (p.Met1?) variant is predicted to disrupt the initiator codon, and thus potentially may interfere with protein expression. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. The p.Met1? variant is reported at a frequency of 0.000018 in the total population of the Genome Aggregation Database, which includes one homozygote. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Based on the potential impact on protein expression and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for SCNN1A-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Fulgent Genetics, Fulgent Genetics RCV005012301 SCV005629598 uncertain significance Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2024-04-01 criteria provided, single submitter clinical testing

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