ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.912_914dup (p.Val305dup)

dbSNP: rs2073927586
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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 RCV001073938 SCV001239503 likely pathogenic Retinal dystrophy 2018-07-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001360711 SCV001556643 uncertain significance not provided 2024-10-17 criteria provided, single submitter clinical testing This variant, c.912_914dup, results in the insertion of 1 amino acid(s) of the PRPF31 protein (p.Val305dup), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with retinitis pigmentosa (PMID: 23343310). It has also been observed to segregate with disease in related individuals. This variant is also known as c.914_915insTGT (p.Val305_Asp306insVal). ClinVar contains an entry for this variant (Variation ID: 866151). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001360711 SCV001824107 likely pathogenic not provided 2019-06-04 criteria provided, single submitter clinical testing In-frame insertion of 1 amino acid in a non-repeat region; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23343310)

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