ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) (rs767489236)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413670 SCV000491126 pathogenic not provided 2018-05-02 criteria provided, single submitter clinical testing The c.619_636del18 variant in the OCA2 gene has been reported previously in an individual with oculocutaneous albinism who was compound heterozygous for the c.619_636del18 variant and another variant. (King et al., 2003). The c.619_636del18 variant is observed in 20/23,972 (0.08%) alleles from individuals of African background in large population cohorts and no individuals were reported to be homozygous (Lek et al., 2016). The c.619_636del18 variant causes an in-frame deletion of codons Leucine 207 to Leucine 212, denoted p.Leu207_Leu212del. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret c.619_636del18 as a pathogenic variant.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000413670 SCV000703176 likely pathogenic not provided 2016-12-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000413670 SCV001250103 pathogenic not provided 2018-07-01 criteria provided, single submitter clinical testing

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