ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.901del (p.Gln301fs)

dbSNP: rs62636292
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000086080 SCV003439408 pathogenic not provided 2024-10-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln301Argfs*9) 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: 22665969). This variant is also known as c.937delC. ClinVar contains an entry for this variant (Variation ID: 99674). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005031594 SCV005669157 pathogenic Retinitis pigmentosa 14; Leber congenital amaurosis 15 2024-05-16 criteria provided, single submitter clinical testing
Retina International RCV000086080 SCV000118224 not provided not provided no assertion provided not provided

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