ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1503+5G>A

gnomAD frequency: 0.00008  dbSNP: rs368124046
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193557 SCV000248367 pathogenic Tyrosinase-positive oculocutaneous albinism 2015-05-26 criteria provided, single submitter clinical testing
GeneDx RCV000302408 SCV000329444 pathogenic not provided 2023-07-13 criteria provided, single submitter clinical testing Intronic +5 splice site variant in a gene for which loss of function is a known mechanism of disease, and splice predictors support a deleterious effect; Published functional studies demonstrate the use of a cryptic splice donor site within intron 14, with sequencing of aberrant transcript demonstrating it results in a frameshift, starting with codon Glycine 502, changing this amino acid to a Valine residue, and creating a premature Stop codon at position 84 of the new reading frame, denoted p.Gly502ValfsX84 (Rimoldi et al., 2014).; This variant is associated with the following publications: (PMID: 15712365, 10649493, 24361966, 31077556)
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000193557 SCV000891285 likely pathogenic Tyrosinase-positive oculocutaneous albinism 2016-05-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000762939 SCV000893362 likely pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2022-04-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000193557 SCV002040575 likely pathogenic Tyrosinase-positive oculocutaneous albinism 2021-11-07 criteria provided, single submitter clinical testing
Invitae RCV000302408 SCV002235033 pathogenic not provided 2024-01-02 criteria provided, single submitter clinical testing This sequence change falls in intron 14 of the OCA2 gene. It does not directly change the encoded amino acid sequence of the OCA2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs368124046, gnomAD 0.01%). This variant has been observed in individuals with oculocutaneous albinism (PMID: 24361966, 29345414; Invitae). ClinVar contains an entry for this variant (Variation ID: 211768). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 24361966). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003468884 SCV004208974 pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2023-10-23 criteria provided, single submitter clinical testing

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