ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.758G>A (p.Arg253His)

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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 RCV002956758 SCV003685931 uncertain significance Inborn genetic diseases 2021-09-01 criteria provided, single submitter clinical testing The c.758G>A (p.R253H) alteration is located in exon 4 (coding exon 3) of the SCNN1A gene. This alteration results from a G to A substitution at nucleotide position 758, causing the arginine (R) at amino acid position 253 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005003003 SCV005629548 uncertain significance Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2024-03-02 criteria provided, single submitter clinical testing

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