ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.230_232dup (p.Arg77_Glu78insGly)

gnomAD frequency: 0.00001  dbSNP: rs61753187
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000085935 SCV002066915 likely pathogenic not provided 2017-11-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000085935 SCV002293763 pathogenic not provided 2023-11-05 criteria provided, single submitter clinical testing This variant, c.230_232dup, results in the insertion of 1 amino acid(s) of the TYR protein (p.Arg77_Glu78insGly), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs752328625, gnomAD 0.04%). This variant has been observed in individual(s) with clinical features of TYR-related conditions and/or oculocutaneous albinism (PMID: 10571953, 30791930, 31077556, 33177702). This variant is also known as 232-233insGGG and c.229_230insGGG. ClinVar contains an entry for this variant (Variation ID: 99554). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003460779 SCV004207582 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-03-04 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000085935 SCV004238787 likely pathogenic not provided 2023-03-02 criteria provided, single submitter clinical testing
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796013 SCV005418148 pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN criteria provided, single submitter clinical testing PM2_Supporting+PM4+PM3_VeryStrong+PP4
Fulgent Genetics, Fulgent Genetics RCV004796013 SCV005631910 pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-05-03 criteria provided, single submitter clinical testing
Retina International RCV000085935 SCV000118078 not provided not provided no assertion provided not provided

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