ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) (rs794726979)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173679 SCV000331703 pathogenic not provided 2016-08-29 criteria provided, single submitter clinical testing
GeneDx RCV000173679 SCV000321336 likely pathogenic not provided 2018-08-06 criteria provided, single submitter clinical testing The F418S variant has been reported in association with ABCA4-related disorders (Zernant et al., 2011; Downes et al., 2012; Fujinami et al., 2013; Müller et al., 2015). The variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). F418S 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. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. In summary, we consider this variant to be likely pathogenic.

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