ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1325T>C (p.Phe442Ser)

dbSNP: rs61752392
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000085387 SCV000779638 uncertain significance not provided 2018-05-30 criteria provided, single submitter clinical testing The F442S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is not observed in large population cohorts (Lek et al., 2016). The variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Retina International RCV000085387 SCV000117524 not provided not provided no assertion provided not provided

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