ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.1919C>T (p.Pro640Leu) (rs760790294)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439383 SCV000511884 likely pathogenic not provided 2015-07-10 criteria provided, single submitter clinical testing The P640L missense change has not been previously reported as a pathogenic variant nor as a benign polymorphism to our knowledge. P640L is considered to be a semi-conservative amino acid substitution with a neutral non-polar residue (Pro) being replaced by another neutral non-polar residue (Leu), which may alter the secondary structure of the protein. The residue at which this substitution occurs is highly conserved in the ABCR protein. Moreover, according to the Human Gene Mutation Database (HGMD), other missense variants in neighboring residues have been reported in association with an ABCA4-related disorder (Q635K, Q636H, C641S, V643G, V643M, D645N). The P640L variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, P640L is a strong candidate for being a pathogenic variant, although the possibility that it is a benign polymorphism cannot be excluded.
Blueprint Genetics RCV001073702 SCV001239261 likely pathogenic Retinal dystrophy 2017-04-13 criteria provided, single submitter clinical testing

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