ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) (rs74653330)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251919 SCV000303423 likely benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000251919 SCV000539964 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Reported in 1 patient with ocular albinism in trans with a splice variant (Lee 1994), 1 Japanese patient with subclinical albinisim who was refered to clinic for severe sunburns (Kawai 2008), 3 Japanese patients with mild disease who has second variants in OCA2 (not clear whether they tested they are in cis or trans) (Suzuki 2003). Transfection of mouse melanocytes with human OCA2 Ala481Thr cDNA resulted in 70% functional activity (Sviderskaya 1997; full text not available). Variant has 4.7% frequency in European population and 20 homozygotes reported in ExAC. ClinVar classification is based on OMIM. Based on the frequency and the studies reporting this variant, it is likely to be a benign variant and lead to a subclinical phenotype at most, therefore does not meet criteria for reporting in BabySeq.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000487934 SCV000575000 uncertain significance not provided 2016-10-01 criteria provided, single submitter clinical testing
Invitae RCV000487934 SCV001022750 benign not provided 2018-12-21 criteria provided, single submitter clinical testing
Mendelics RCV000001005 SCV001139534 benign Tyrosinase-positive oculocutaneous albinism 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000001005 SCV001276409 benign Tyrosinase-positive oculocutaneous albinism 2017-04-27 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
OMIM RCV000001005 SCV000021155 pathogenic Tyrosinase-positive oculocutaneous albinism 2007-01-01 no assertion criteria provided literature only

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