ClinVar Miner

Submissions for variant NM_000550.3(TYRP1):c.1534C>T (p.Gln512Ter)

gnomAD frequency: 0.00004  dbSNP: rs752358009
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001855859 SCV002283950 uncertain significance not provided 2023-08-04 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This sequence change creates a premature translational stop signal (p.Gln512*) in the TYRP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 26 amino acid(s) of the TYRP1 protein. This variant is present in population databases (rs752358009, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with clinical features of oculocutaneous albinism (PMID: 28266639). ClinVar contains an entry for this variant (Variation ID: 617812).
3billion RCV002250690 SCV002521713 uncertain significance Oculocutaneous albinism type 3 2022-05-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. The predicted truncated protein may be shortened by less than 10%. The variant has been reported as likely pathogenic for Nonsyndromic Oculocutaneous Albinism (ClinVar ID: VCV000617812). However, the evidence of pathogenicity is insufficient at this time. Therefore, this variant is classified as uncertain significanceaccording to the recommendation of ACMG/AMP guideline.
GeneDx RCV001855859 SCV003842620 likely pathogenic not provided 2022-09-21 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation, as the last 26 amino acids are lost, and other loss-of-function variants have been reported downstream in HGMD; This variant is associated with the following publications: (PMID: 28266639)
University of Washington Center for Mendelian Genomics, University of Washington RCV000755097 SCV000882915 likely pathogenic Nonsyndromic Oculocutaneous Albinism 2017-03-07 no assertion criteria provided research

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