ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.77G>A (p.Arg26His)

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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 RCV004954876 SCV005501696 uncertain significance Inborn genetic diseases 2024-07-30 criteria provided, single submitter clinical testing The c.77G>A (p.R26H) alteration is located in exon 2 (coding exon 1) of the SCNN1A gene. This alteration results from a G to A substitution at nucleotide position 77, causing the arginine (R) at amino acid position 26 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 RCV005003822 SCV005629594 uncertain significance Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2024-01-22 criteria provided, single submitter clinical testing

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