ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.4049T>C (p.Leu1350Pro) (rs1064793012)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483648 SCV000564532 likely pathogenic not provided 2013-01-08 criteria provided, single submitter clinical testing The L1350P missense change has not been reported as a pathogenic variant or as a benign polymorphism to our knowledge. The L1350P amino acid substitution is semi-conservative as both Leucine and Proline are neutral and non-polar residues. However, the addition of a Proline residue with its unique structure, may affect the structure of the protein. The residue at which this substitution occurs is conserved within the ABCR protein and in related proteins. An external variant database reports that L1350P was not observed in approximately 6,500 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. Therefore, L1350P is a strong candidate for a pathogenic variant, although the possibility that it is a benign polymorphism cannot be excluded.

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