ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.2338+1G>T

gnomAD frequency: 0.00004  dbSNP: rs770635415
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001950284 SCV002226044 pathogenic not provided 2024-10-22 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 22 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). This variant is present in population databases (rs770635415, gnomAD 0.007%). Disruption of this splice site has been observed in individual(s) with oculocutaneous albinism (PMID: 29345414). 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: 1439928). 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.
Baylor Genetics RCV003464272 SCV004208998 pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2023-09-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005006277 SCV005630543 pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-04-11 criteria provided, single submitter clinical testing

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