ClinVar Miner

Submissions for variant NM_001042681.2(RERE):c.1902G>C (p.Lys634Asn)

dbSNP: rs1234776650
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001752347 SCV001997171 uncertain significance not provided 2019-12-16 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant neighbors an exon/intron boundary in a gene for which loss-of-function is not an established mechanism of disease and both in silico predictors and evolutionary conservation support a deleterious effect. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown; In addition, in silico predictors and evolutionary conservation suggest the missense change may have a deleterious effect on the protein

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