ClinVar Miner

Submissions for variant NM_000350.3(ABCA4):c.2791G>T (p.Val931Leu)

dbSNP: rs58331765
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001073459 SCV001239001 likely pathogenic Retinal dystrophy 2019-02-27 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV001073459 SCV004704835 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004587038 SCV005076344 uncertain significance not specified 2024-04-12 criteria provided, single submitter clinical testing Variant summary: ABCA4 c.2791G>T (p.Val931Leu) results in a conservative amino acid change located in the ABC transporter-like, ATP-binding domain (IPR003439) of the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant was absent in 251362 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2791G>T in individuals affected with Retinitis Pigmentosa and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 865894). Based on the evidence outlined above, the variant was classified as uncertain significance.

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