ClinVar Miner

Submissions for variant NM_001039.4(SCNN1G):c.146_149dup (p.Leu51fs)

dbSNP: rs886041786
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000271903 SCV000330545 pathogenic not provided 2016-05-16 criteria provided, single submitter clinical testing The c.146_149dupGCCG pathogenic variant in the SCNN1G gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Leucine 51, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 67 of the new reading frame, denoted p.Leu51ProfsX67. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.146_149dupGCCG variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.146_149dupGCCG as a pathogenic variant.

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