ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.649del (p.Arg217fs)

gnomAD frequency: 0.00001  dbSNP: rs61754364
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000085963 SCV003441024 pathogenic not provided 2024-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg217Glyfs*9) in the TYR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYR are known to be pathogenic (PMID: 23504663). This variant is present in population databases (rs61754364, gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with oculocutaneous albinism (PMID: 8128955). This variant is also known as R217ùùôC. ClinVar contains an entry for this variant (Variation ID: 99574). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003460784 SCV004207588 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-08-08 criteria provided, single submitter clinical testing
GeneDx RCV000085963 SCV005325010 pathogenic not provided 2023-12-19 criteria provided, single submitter clinical testing Frameshift 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: 8128955)
Fulgent Genetics, Fulgent Genetics RCV005008006 SCV005631932 pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-03-16 criteria provided, single submitter clinical testing
Retina International RCV000085963 SCV000118106 not provided not provided no assertion provided not provided

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