ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.1550T>C (p.Met517Thr) (rs144653364)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519048 SCV000620132 uncertain significance not provided 2017-08-22 criteria provided, single submitter clinical testing The M517T variant in the SCNN1G gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The M517T variant is observed in 10/6604 (0.15%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016). The M517T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret M517T as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000764039 SCV000894993 uncertain significance Autosomal recessive pseudohypoaldosteronism type 1; Bronchiectasis with or without elevated sweat chloride 3; LIDDLE SYNDROME 2 2018-10-31 criteria provided, single submitter clinical testing

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