ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.2177_2181del (p.Val726fs)

dbSNP: rs771620099
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000592782 SCV000703128 pathogenic not provided 2016-11-22 criteria provided, single submitter clinical testing
Invitae RCV000592782 SCV001585647 pathogenic not provided 2023-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val726Glyfs*13) in the OCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OCA2 are known to be pathogenic (PMID: 19865097, 21541274). This variant is present in population databases (rs771620099, gnomAD 0.02%). This premature translational stop signal has been observed in individual(s) with a family history of oculocutaneous albinism (PMID: 7762554). This variant is also known as V726-L727delGTCCT. ClinVar contains an entry for this variant (Variation ID: 498226). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV001797757 SCV002040564 pathogenic Tyrosinase-positive oculocutaneous albinism 2021-11-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003424163 SCV004118323 pathogenic OCA2-related disorder 2023-06-23 criteria provided, single submitter clinical testing The OCA2 c.2177_2181del5 variant is predicted to result in a frameshift and premature protein termination (p.Val726Glyfs*13). This variant has been reported in a parent of an oculocutaneous albinism affected child (child was not available for testing; Spritz et al. 1995. PubMed ID: 7762554, reported as V726-L727delGTCCT). This variant is reported in 0.024% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/15-28116362-CCAGGA-C). Frameshift variants in OCA2 are expected to be pathogenic. Given the evidence, we interpret c.2177_2181del (p.Val726Glyfs*13) as pathogenic.
Baylor Genetics RCV004568314 SCV005053782 likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-02-17 criteria provided, single submitter clinical testing

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