ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) (rs1126809)

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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000254054 SCV000303890 benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000085910 SCV000340022 uncertain significance not provided 2017-10-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379382 SCV000374872 likely benign Oculocutaneous albinism 2016-06-14 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000626673 SCV000747376 likely pathogenic Hypoplasia of the fovea; Albinism; Abnormality of metabolism/homeostasis; Elevated hepatic transaminases; Slow decrease in visual acuity; Choroidal neovascularization 2017-01-01 criteria provided, single submitter clinical testing
Mendelics RCV000500466 SCV001138404 likely benign Tyrosinase-negative oculocutaneous albinism 2019-05-28 criteria provided, single submitter clinical testing
OMIM RCV000003978 SCV000024143 pathogenic Oculocutaneous albinism type 1B 2013-06-01 no assertion criteria provided literature only
OMIM RCV000003979 SCV000024145 pathogenic Oculocutaneous albinism type 1, temperature sensitive 2013-06-01 no assertion criteria provided literature only
OMIM RCV000003980 SCV000024146 risk factor Cutaneous malignant melanoma 8 2013-06-01 no assertion criteria provided literature only
OMIM RCV000003981 SCV000024147 association Skin/hair/eye pigmentation, variation in, 3 2013-06-01 no assertion criteria provided literature only
OMIM RCV000003982 SCV000024148 association Skin/hair/eye pigmentation 3, blue/green eyes 2013-06-01 no assertion criteria provided literature only
OMIM RCV000023596 SCV000044887 pathogenic Waardenburg syndrome 2 and ocular albinism, digenic 2013-06-01 no assertion criteria provided literature only
GeneReviews RCV000003978 SCV000086776 non-pathogenic Oculocutaneous albinism type 1B 2013-05-16 no assertion criteria provided curation Converted during submission to Benign.
Retina International RCV000085910 SCV000118053 not provided not provided no assertion provided not provided
Genetic Services Laboratory, University of Chicago RCV000500466 SCV000597779 other Tyrosinase-negative oculocutaneous albinism 2017-06-26 no assertion criteria provided clinical testing
Molecular Vision Laboratory RCV000721172 SCV000852087 other Autosomal recessive ocular albinism 2018-09-10 no assertion criteria provided clinical testing Autosomal recessive ocular albinism (AROA) has been linked to compound heterozygosity of TYR mutations with Arg402Gln. Arg402Gln has been shown to encode for a tyrosinase with reduced thermal stability suggesting a hypomorphic effect. The variant has reduced penetrance as there exists a discrepancy between expected incidence of Arg402Gln compound heterozygotes and AROA prevalence. Segregation studies have also revealed unaffected compound heterozygotes suggesting there are additional factors contributing to the AROA condition. Population allele frequency is high (gnomAD AF 0.19287) and there are unaffected homozygotes.

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