ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.2079G>A (p.Glu693=)

gnomAD frequency: 0.00001  dbSNP: rs1374558186
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000761901 SCV000892120 likely pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing
Invitae RCV000761901 SCV003461691 uncertain significance not provided 2022-02-27 criteria provided, single submitter clinical testing This sequence change affects codon 693 of the OCA2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the OCA2 protein. This variant also falls at the last nucleotide of exon 19, which is part of the consensus splice site for this exon. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with ocular albinism (PMID: 29345414). ClinVar contains an entry for this variant (Variation ID: 623862). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences RCV003396329 SCV004111583 uncertain significance OCA2-related condition 2023-04-25 criteria provided, single submitter clinical testing The OCA2 c.2079G>A variant is not predicted to result in an amino acid change (p.=). This variant affects the last nucleotide of the exon and is predicted to significantly weaken the canonical donor splice site (Alamut Visual Plus v1.6.1). This variant has been reported in one individual with oculocutaneous albinism II; however, additional information on segregation and presence of second variant was not provided (Table S18 in Lasseaux et al. 2018. PubMed ID: 29345414). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Baylor Genetics RCV003465683 SCV004209006 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2023-09-06 criteria provided, single submitter clinical testing

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