ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.1131T>G (p.Ser377Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003364685 SCV004079868 uncertain significance Inborn genetic diseases 2023-07-29 criteria provided, single submitter clinical testing The c.1131T>G (p.S377R) alteration is located in exon 7 (coding exon 6) of the SCNN1G gene. This alteration results from a T to G substitution at nucleotide position 1131, causing the serine (S) at amino acid position 377 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005021926 SCV005642403 uncertain significance Bronchiectasis with or without elevated sweat chloride 3; Liddle syndrome 2; Pseudohypoaldosteronism, type IB3, autosomal recessive 2024-04-07 criteria provided, single submitter clinical testing

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