ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1045-9T>G

gnomAD frequency: 0.00001  dbSNP: rs755604671
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173665 SCV000224804 uncertain significance not provided 2017-11-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000173665 SCV002300544 pathogenic not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the OCA2 gene. It does not directly change the encoded amino acid sequence of the OCA2 protein. This variant is present in population databases (rs755604671, gnomAD 0.009%). This variant has been observed in individual(s) with oculocutaneous albinism (PMID: 29345414; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 193572). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000173665 SCV002599650 likely pathogenic not provided 2024-04-03 criteria provided, single submitter clinical testing RNA studies demonstrate a damaging effect: skipping of exon 10 (PMID: 37650133); This variant is associated with the following publications: (PMID: 37650133, 34838614, 29345414, 38076877)
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV003128232 SCV003804569 likely pathogenic Tyrosinase-positive oculocutaneous albinism criteria provided, single submitter clinical testing
Baylor Genetics RCV003468853 SCV004208984 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2023-10-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003150966 SCV003839800 uncertain significance not specified 2022-08-18 no assertion criteria provided clinical testing DNA sequence analysis of the OCA2 gene demonstrated a sequence change in intron 9, c.1045-9T>G. This change has been described in the homozygous state in an individual with oculocutaneous albinism (PMID: 29345414). This sequence change has been described in the gnomAD database with a frequency of 0.0021% in the overall population (dbSNP rs755604671). This sequence change is not predicted to have a deleterious effect on splicing based on in-silico splice prediction programs. The functional significance of this sequence change is not known at present and its contribution to this individual's disease phenotype cannot definitively be determined.

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