ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1842+2T>C

dbSNP: rs1226502822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001956266 SCV002245991 pathogenic not provided 2023-04-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1458235). Disruption of this splice site has been observed in individuals with clinical features of ocular albinism (PMID: 28451379; Invitae). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change affects a donor splice site in intron 17 of the OCA2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in OCA2 are known to be pathogenic (PMID: 19865097, 21541274).
Centre for Human Genetics, University of Kinshasa RCV002274238 SCV002558849 pathogenic Tyrosinase-positive oculocutaneous albinism 2022-08-06 criteria provided, single submitter clinical testing This affects a canonical splice site. This variant is very rare wih no homozygous in gnomAD (AF: 0.00000398 ), was submited in ClinVar (VCV001458235.1) and is mentionned in at least 4 publications (PubMed: 16199547‚ 19865097‚ 21541274‚ 28451379). We identified this variant in a heterozygous state in one patient with Tyrosinase-positive oculocutaneous albinism in the Democratic Republic of Congo (DRC). This patient was heterozygous for the classic 2.7 deletion in the OCA2 gene. Segregation analysis was not performed to unequivocally establish co-segregation with the 2.7 deletion. This variant was classified as pathogenic according to the ACMG guidelines.

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