ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.391_393del (p.Lys131del)

dbSNP: rs1413017181
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe RCV001093592 SCV000998903 pathogenic Oculocutaneous albinism type 1B criteria provided, single submitter research
Genome-Nilou Lab RCV001593158 SCV001821929 pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769286 SCV004642557 uncertain significance not provided 2023-03-18 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant disrupts a region of the TYR protein in which other variant(s) (p.Lys131Glu) have been observed in individuals with TYR-related conditions (PMID: 16098056). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 800539). This variant has been observed in individual(s) with oculocutaneous albinism (PMID: 32411182; Invitae). This variant is present in population databases (no rsID available, gnomAD 0.02%). This variant, c.391_393del, results in the deletion of 1 amino acid(s) of the TYR protein (p.Lys131del), but otherwise preserves the integrity of the reading frame.
GeneDx RCV003769286 SCV005326636 uncertain significance not provided 2023-11-04 criteria provided, single submitter clinical testing In silico analysis supports a deleterious effect on protein structure/function; In-frame deletion of 1 amino acids in a non-repeat region; This variant is associated with the following publications: (PMID: 32411182)
Fulgent Genetics, Fulgent Genetics RCV005004472 SCV005631919 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-02-01 criteria provided, single submitter clinical testing

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