ClinVar Miner

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

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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
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.
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

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