ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr)

gnomAD frequency: 0.00006  dbSNP: rs141756749
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714666 SCV000845386 uncertain significance Pseudohypoaldosteronism, type IB1, autosomal recessive 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714667 SCV000845387 uncertain significance Bronchiectasis with or without elevated sweat chloride 2 2018-08-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507252 SCV002816436 uncertain significance Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2024-05-02 criteria provided, single submitter clinical testing
GeneDx RCV004773123 SCV005384607 uncertain significance not provided 2024-01-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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