ClinVar Miner

Submissions for variant NM_000503.6(EYA1):c.1739T>G (p.Leu580Arg)

dbSNP: rs1585717154
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798562 SCV000938183 likely pathogenic Melnick-Fraser syndrome 2019-03-13 criteria provided, single submitter clinical testing This variant has been observed to be de novo in an individual with clinical features of branchio-oto-renal syndrome (BORS) (Invitae). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with arginine at codon 580 of the EYA1 protein (p.Leu580Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine.

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