ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.2098T>C (p.Tyr700His)

dbSNP: rs1581164903
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002361 SCV001160268 uncertain significance Retinitis pigmentosa 43 2019-02-15 criteria provided, single submitter clinical testing The PDE6A c.2098T>C; p.Tyr700His variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The tyrosine at codon 700 is highly conserved, but computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the p.Tyr700His variant is uncertain at this time.

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