ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.915C>A (p.Asp305Glu) (rs142170797)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486643 SCV000565644 uncertain significance not provided 2017-03-22 criteria provided, single submitter clinical testing The D305E variant in the TYR gene has been reported in the heterozygous state in an individual with oculocutaneous albinism (OCA), though no second variant was identified in TYR by sequence analysis (King et al., 2003). The D305E variant is observed in 8/16512 (0.048%) alleles from individuals of South Asian background in the ExAC dataset (Lek et al., 2016). The D305E variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret D305E as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000765023 SCV000896208 uncertain significance Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Albinism, ocular, with sensorineural deafness; Skin/hair/eye pigmentation, variation in, 3 2018-10-31 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV000789027 SCV000928363 likely pathogenic Tyrosinase-negative oculocutaneous albinism 2018-05-10 criteria provided, single submitter clinical testing PS4,PM1,PP2,PP3
Illumina Clinical Services Laboratory,Illumina RCV001109651 SCV001267012 uncertain significance Oculocutaneous albinism 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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