Submissions for variant NM_000372.5(TYR):c.149C>T (p.Ser50Leu)

gnomAD frequency: 0.00001  dbSNP: rs61753181

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV004536256	SCV004118156	uncertain significance	TYR-related disorder	2023-03-03	criteria provided, single submitter	clinical testing	The TYR c.149C>T variant is predicted to result in the amino acid substitution p.Ser50Leu. This variant has been reported in an individual with oculocutaneous albinism (Simeonov et al. 2013. PubMed ID: 23504663); however, a second TYR variant was not reported for this individual. This variant has also been reported along with a second TYR variant in an individual with oculocutaneous albinism (Gao et al. 2017. PubMed ID: 28451379). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Although we suspect that this variant may be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Clinical Genetics, Academic Medical Center	RCV001699988	SCV001920573	likely pathogenic	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001699988	SCV001974468	likely pathogenic	not provided		no assertion criteria provided	clinical testing