ClinVar Miner

Submissions for variant NC_000001.11:g.161781912dup

dbSNP: rs1553227755
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000608330 SCV000712085 pathogenic Achromatopsia 2016-05-15 criteria provided, single submitter clinical testing The p.Glu54GlyfsX5 variant in ATF6 has not been reported in the literature and w as absent form large population studies. This variant is predicted to cause a fr ameshift, which alters the protein?s amino acid sequence beginning at position 5 4 and leads to a premature termination codon 5 amino acids downstream. This alte ration is then predicted to lead to a truncated or absent protein. Biallelic los s of function of the ATF6 gene has been associated with achromatopsia. In summar y, the p.Glu54GlyfsX5 variant meets our criteria to be classified as pathogenic for achromatopsia in an autosomal recessive manner based upon its predicted func tional impact and absence from controls.

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