Submissions for variant NM_001039.4(SCNN1G):c.1874C>T (p.Pro625Leu)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV003400171	SCV004110851	uncertain significance	SCNN1G-related disorder	2023-03-20	criteria provided, single submitter	clinical testing	The SCNN1G c.1874C>T variant is predicted to result in the amino acid substitution p.Pro625Leu. This variant was reported in the heterozygous state in an individual with pediatric Liddle syndrome that was characterized by early-onset hypertension (Fan et al. 2020. PubMed ID: 32161960). The c.1874C>T variant was also found in three other family members who all presented with early-onset hypertension and was absent in unaffected family members (Fan et al. 2020. PubMed ID: 32161960). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics	RCV005021947	SCV005644529	uncertain significance	Bronchiectasis with or without elevated sweat chloride 3; Liddle syndrome 2; Pseudohypoaldosteronism, type IB3, autosomal recessive	2024-03-22	criteria provided, single submitter	clinical testing