ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.950del (p.Leu316_Leu317insTer)

dbSNP: rs747395624
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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 RCV001938159 SCV002191926 pathogenic not provided 2024-02-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu317*) 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 (rs747395624, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with OCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1417098). For these reasons, this variant has been classified as Pathogenic.
Clinical Genomics Laboratory, Washington University in St. Louis RCV003452160 SCV004177121 pathogenic Tyrosinase-positive oculocutaneous albinism 2023-10-31 criteria provided, single submitter clinical testing The OCA2 c.950del (p.Leu317Ter) variant, to our knowledge, has not been reported in the medical literature but has been reported in the ClinVar database as a germline pathogenic variant by one submitter. This variant causes a frameshift by deleting a single nucleotide, leading to an immediate premature termination codon, which is predicted to lead to nonsense mediated decay. Additionally, other variants that introduce a premature termination codon in this region have been described in affected individuals and are considered pathogenic (Okamura K and Suzuki T. PMID: 32969595). Based on available information and the ACMG/AMP guidelines for variant interpretation (Richards S et al., PMID: 25741868), this variant is classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005006229 SCV005630593 pathogenic Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES 2024-03-21 criteria provided, single submitter clinical testing

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