ClinVar Miner

Submissions for variant NM_000550.3(TYRP1):c.351G>A (p.Trp117Ter)

gnomAD frequency: 0.00004  dbSNP: rs780433845
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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 RCV001783999 SCV002240363 pathogenic not provided 2025-01-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp117*) in the TYRP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYRP1 are known to be pathogenic (PMID: 8651291, 9345097). This variant is present in population databases (rs780433845, gnomAD 0.04%). This premature translational stop signal has been observed in individual(s) with ocular albinism (internal data). ClinVar contains an entry for this variant (Variation ID: 1325324). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002506824 SCV002815981 likely pathogenic Oculocutaneous albinism type 3; MELANESIAN BLOND HAIR 2024-03-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003994327 SCV004813670 pathogenic Oculocutaneous albinism type 3 2024-02-27 criteria provided, single submitter clinical testing Variant summary: TYRP1 c.351G>A (p.Trp117X) results in a premature termination codon, predicted to cause absence of the protein due to nonsense mediated decay, which is a commonly known mechanism for disease. The variant allele was found at a frequency of 6e-05 in 250222 control chromosomes. To our knowledge, no occurrence of c.351G>A in individuals affected with Oculocutaneous albinism type 3 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 1325324). Based on the evidence outlined above, the variant was classified as pathogenic.

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