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: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000373290 SCV000330003 pathogenic not provided 2017-08-28 criteria provided, single submitter clinical testing The S166X variant in the TYRP1 gene has been reported previously in both the homozygous and compound heterozygous state, accounting for 45% of the pathogenic TYRP1 alleles identified in a group of 19 unrelated patients with rufous oculocutaneous albinism (Manga et al., 1997). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S166X variant is observed in 7/10400 (0.067%) alleles from individuals of African background in the ExAC dataset (Lek et al., 2016). We interpret S166X as a pathogenic variant.
Invitae 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

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