ClinVar Miner

Submissions for variant NM_012469.4(PRPF6):c.514C>T (p.Arg172Trp)

dbSNP: rs369787039
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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 RCV001074688 SCV001240281 likely pathogenic Retinal dystrophy 2021-04-08 criteria provided, single submitter clinical testing
Invitae RCV001226967 SCV001399300 pathogenic not provided 2023-01-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg172 amino acid residue in PRPF6. Other variant(s) that disrupt this residue have been observed in individuals with PRPF6-related conditions (Invitae), which suggests that this may be a clinically significant amino acid residue. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt PRPF6 protein function. ClinVar contains an entry for this variant (Variation ID: 866579). This missense change has been observed in individuals with retinitis pigmentosa (PMID: 25356976; Invitae). This variant is present in population databases (rs369787039, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 172 of the PRPF6 protein (p.Arg172Trp).
Dept Of Ophthalmology, Nagoya University RCV001074688 SCV004707014 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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