ClinVar Miner

Submissions for variant NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) (rs61745150)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000442309 SCV000224806 uncertain significance not provided 2014-08-18 criteria provided, single submitter clinical testing
GeneDx RCV000442309 SCV000520825 uncertain significance not provided 2018-06-06 criteria provided, single submitter clinical testing The A368V variant in the OCA2 gene has been reported previously in two individuals with oculocutaneous albinism (OCA), however, it is unknown whether these individuals were screened for variants in other genes associated with OCA. In addition, a second variant in the OCA2 gene was not identified for one individual, and familial segregation data was lacking in both reports (Oetting et al., 1998; Wolfson et al., 2016). The A368V variant is observed in 69/276,848 (0.0249%) global alleles in large population cohorts (Lek et al., 2016). The A368V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret A368V as a variant of uncertain significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000442309 SCV001250102 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000709815 SCV000840143 not provided Tyrosinase-positive oculocutaneous albinism no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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