ClinVar Miner

Submissions for variant NM_001004334.4(GPR179):c.1144del (p.Ala382fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004547261 SCV005042672 likely pathogenic Congenital stationary night blindness 1B criteria provided, single submitter clinical testing The frameshift c.1144del p.Ala382ProfsTer16 variant in the GPR179 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. This variant causes a frameshift starting with codon Alanine 382, changes this amino acid to Proline residue, and creates a premature Stop codon at position 16 of the new reading frame, denoted p.Ala382ProfsTer16. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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