ClinVar Miner

Submissions for variant NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)

gnomAD frequency: 0.00003  dbSNP: rs773968778
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987685 SCV001137102 pathogenic Leber congenital amaurosis 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV002550602 SCV003313173 pathogenic not provided 2023-05-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 802207). This premature translational stop signal has been observed in individual(s) with retinitis pigmentosa (PMID: 33851411). This variant is present in population databases (rs773968778, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Tyr520*) in the TULP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 23 amino acid(s) of the TULP1 protein.

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