ClinVar Miner

Submissions for variant NM_015629.4(PRPF31):c.1140C>T (p.Phe380=)

gnomAD frequency: 0.00001  dbSNP: rs1411083098
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000762038 SCV000892283 uncertain significance not provided 2018-08-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002240 SCV001160115 uncertain significance Retinitis pigmentosa 11 2022-02-28 criteria provided, single submitter clinical testing The PRPF31 c.1140C>T; p.Phe380Phe variant, to our knowledge, is not reported in the medical literature or in gene-specific databases. The variant is found in 3 out of 152350 alleles in the Genome Aggregation Database, indicating it is not a common polymorphism. This is a silent variant and the nucleotide at this position is not conserved, but at least one computational algorithm predicts this variant weakens splicing at the downstream donor (Alamut v.2.11). Considering available information, the clinical significance of this variant cannot be determined with certainty.
Blueprint Genetics RCV001074858 SCV001240460 uncertain significance Retinal dystrophy 2019-07-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000762038 SCV002477954 likely benign not provided 2023-09-09 criteria provided, single submitter clinical testing

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