ClinVar Miner

Submissions for variant NM_000336.3(SCNN1B):c.554A>T (p.Asn185Ile)

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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 RCV003220813 SCV003912247 uncertain significance Inborn genetic diseases 2023-03-14 criteria provided, single submitter clinical testing The c.554A>T (p.N185I) alteration is located in exon 3 (coding exon 2) of the SCNN1B gene. This alteration results from a A to T substitution at nucleotide position 554, causing the asparagine (N) at amino acid position 185 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005021858 SCV005644569 uncertain significance Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type IB2, autosomal recessive 2024-03-30 criteria provided, single submitter clinical testing

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