ClinVar Miner

Submissions for variant NM_000550.3(TYRP1):c.497C>G (p.Ser166Ter)

gnomAD frequency: 0.00021  dbSNP: rs104894130
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000373290 SCV000330003 pathogenic not provided 2024-05-08 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 35616356, 25525159, 18680187, 31589614, 30169122, 10094567, 31345219, 9345097)
Labcorp Genetics (formerly Invitae), Labcorp RCV000373290 SCV002219365 pathogenic not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser166*) 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 (rs104894130, gnomAD 0.06%). This premature translational stop signal has been observed in individual(s) with oculocutaneous albinism (PMID: 9345097). ClinVar contains an entry for this variant (Variation ID: 17594). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000019159 SCV000039447 pathogenic Oculocutaneous albinism type 3 2008-09-15 no assertion criteria provided literature only
OMIM RCV000019160 SCV000039448 risk factor OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF 2008-09-15 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004752712 SCV005347533 pathogenic TYRP1-related disorder 2024-04-01 no assertion criteria provided clinical testing The TYRP1 c.497C>G variant is predicted to result in premature protein termination (p.Ser166*). This variant has been reported in both the homozygous and compound heterozygous states in individuals with oculocutaneous albinism (Manga et al. 1997. PubMed ID: 9345097; Moosa et al. 2022. PubMed ID: 35616356). This variant is reported in 0.068% of alleles in individuals of African descent in gnomAD. Nonsense variants in TYRP1 are expected to be pathogenic and therefore we interpret this variant as pathogenic.

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