ClinVar Miner

Submissions for variant NM_213599.2(ANO5):c.1981C>T (p.Leu661Phe) (rs944857212)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658416 SCV000780188 uncertain significance not provided 2018-05-29 criteria provided, single submitter clinical testing The L661F variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L661F variant is not observed in large population cohorts (Lek et al., 2016). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.

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