ClinVar Miner

Submissions for variant NM_000550.3(TYRP1):c.1082G>C (p.Gly361Ala)

gnomAD frequency: 0.00001  dbSNP: rs372225049
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001754441 SCV001988441 uncertain significance not provided 2019-11-19 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; In silico analysis, which includes splice predictors, supports a deleterious effect; Has been reported as a single heterozygous variant in one patient with albinism (Lasseaux et al., 2018); has also been reported in the heterozygous state in a single patient from a cohort of families with cutaneous melanoma (Nathan et al., 2019); This variant is associated with the following publications: (PMID: 29345414, 31233279)
Fulgent Genetics, Fulgent Genetics RCV002496080 SCV002777173 uncertain significance Oculocutaneous albinism type 3; MELANESIAN BLOND HAIR 2021-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001754441 SCV003459983 uncertain significance not provided 2021-12-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 361 of the TYRP1 protein (p.Gly361Ala). This variant is present in population databases (rs372225049, gnomAD 0.005%). This missense change has been observed in individual(s) with ocular albinism (PMID: 29345414). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 1304573). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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