ClinVar Miner

Submissions for variant NM_014588.6(VSX1):c.165C>A (p.Cys55Ter)

gnomAD frequency: 0.00009  dbSNP: rs756572706
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579261 SCV000680589 uncertain significance not provided 2017-12-04 criteria provided, single submitter clinical testing he C55X variant in the VSX1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. However, the C55X variant is observed in 8/59388 (0.014%) alleles from individuals of non-Finnish European background in large population cohorts (Lek et al., 2016). We interpret C55X as a variant of uncertain significance.
Illumina Laboratory Services, Illumina RCV001137803 SCV001297785 uncertain significance Polymorphous corneal dystrophy 2018-06-29 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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