ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.629C>G (p.Ser210Ter)

dbSNP: rs1761158425
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001093079 SCV001249892 pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001093079 SCV003439373 pathogenic not provided 2024-07-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser210*) in the TULP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TULP1 are known to be pathogenic (PMID: 8606774, 10549638, 15024725, 18055821). 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: 23591405). ClinVar contains an entry for this variant (Variation ID: 872549). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005036403 SCV005671272 pathogenic Retinitis pigmentosa 14; Leber congenital amaurosis 15 2024-04-17 criteria provided, single submitter clinical testing

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