ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.358_359del (p.Lys120fs)

dbSNP: rs1555792415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001682650 SCV001905542 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001682650 SCV002194551 pathogenic not provided 2022-09-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys120Glufs*4) in the PRPF31 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PRPF31 are known to be pathogenic (PMID: 18317597, 23950152). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 32100970). ClinVar contains an entry for this variant (Variation ID: 1275773). For these reasons, this variant has been classified as Pathogenic.

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