ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.128C>T (p.Ala43Val)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002681801 SCV002995104 uncertain significance not provided 2022-05-29 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SCNN1A-related conditions. This variant is present in population databases (rs759745474, gnomAD 0.03%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 43 of the SCNN1A protein (p.Ala43Val).
Ambry Genetics RCV004066912 SCV004946085 uncertain significance Inborn genetic diseases 2024-02-21 criteria provided, single submitter clinical testing The c.128C>T (p.A43V) alteration is located in exon 2 (coding exon 1) of the SCNN1A gene. This alteration results from a C to T substitution at nucleotide position 128, causing the alanine (A) at amino acid position 43 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005008695 SCV005629589 uncertain significance Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2023-12-29 criteria provided, single submitter clinical testing

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