ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.1827G>C (p.Leu609Phe)

gnomAD frequency: 0.00008  dbSNP: rs745715995
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000345193 SCV000395748 likely benign Pseudohypoaldosteronism, type IB1, autosomal recessive 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV000398385 SCV000395749 likely benign Liddle syndrome 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV002522829 SCV003293540 uncertain significance not provided 2024-03-16 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 609 of the SCNN1G protein (p.Leu609Phe). This variant is present in population databases (rs745715995, gnomAD 0.06%). This missense change has been observed in individual(s) with hypertension (PMID: 15198480). ClinVar contains an entry for this variant (Variation ID: 318360). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV005016700 SCV005644525 uncertain significance Bronchiectasis with or without elevated sweat chloride 3; Liddle syndrome 2; Pseudohypoaldosteronism, type IB3, autosomal recessive 2024-02-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003969899 SCV004783118 uncertain significance SCNN1G-related disorder 2024-02-03 no assertion criteria provided clinical testing The SCNN1G c.1827G>C variant is predicted to result in the amino acid substitution p.Leu609Phe. This variant has been reported in individuals with hypertension, but the clinical significance is unknown (Kamide et al. 2004. PubMed ID: 15198480; Liu et al. 2018. PubMed ID: 28915228). This variant is reported in 0.065% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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