ClinVar Miner

Submissions for variant NM_001038.6(SCNN1A):c.488A>C (p.Lys163Thr)

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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 RCV004954882 SCV005501707 uncertain significance Inborn genetic diseases 2024-10-29 criteria provided, single submitter clinical testing The c.488A>C (p.K163T) alteration is located in exon 3 (coding exon 2) of the SCNN1A gene. This alteration results from a A to C substitution at nucleotide position 488, causing the lysine (K) at amino acid position 163 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005003823 SCV005629574 uncertain significance Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3 2023-12-24 criteria provided, single submitter clinical testing

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