ClinVar Miner

Submissions for variant NM_001206999.2(CIT):c.881A>G (p.Tyr294Cys)

gnomAD frequency: 0.00001  dbSNP: rs200024332
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001770683 SCV001992695 uncertain significance not provided 2019-06-17 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004040138 SCV004927230 uncertain significance Inborn genetic diseases 2024-01-19 criteria provided, single submitter clinical testing The c.881A>G (p.Y294C) alteration is located in exon 8 (coding exon 7) of the CIT gene. This alteration results from a A to G substitution at nucleotide position 881, causing the tyrosine (Y) at amino acid position 294 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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