ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.1495+2dup

dbSNP: rs1581735836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003558629 SCV004281229 pathogenic not provided 2023-10-03 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the TULP1 gene. It does not directly change the encoded amino acid sequence of the TULP1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with retinitis pigmentosa (PMID: 18432314, 33921607). It has also been observed to segregate with disease in related individuals. This variant is also known as c.1495+2_1495+3insT and c.1495+2dupT. ClinVar contains an entry for this variant (Variation ID: 812437). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant is associated with altered splicing resulting in multiple RNA products (PMID: 18432314). For these reasons, this variant has been classified as Pathogenic.
Sharon lab, Hadassah-Hebrew University Medical Center RCV001003238 SCV001161317 pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research

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