ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.1246_1281dup (p.Lys427_Glu428insCysIleHisSerCysPheGlnGluSerMetIleLys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002634513 SCV002967835 uncertain significance not provided 2022-04-25 criteria provided, single submitter clinical testing This variant, c.1246_1281dup, results in the insertion of 12 amino acid(s) of the SCNN1A protein (p.Cys416_Lys427dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs779757552, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SCNN1A-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005008661 SCV005629515 uncertain significance Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2024-05-22 criteria provided, single submitter clinical testing

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