ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2683C>T (p.His895Tyr)

gnomAD frequency: 0.00001  dbSNP: rs934460322
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001570975 SCV001795354 uncertain significance not provided 2019-07-12 criteria provided, single submitter clinical testing Not observed at a significant frequency 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 RCV003284376 SCV003963249 uncertain significance Inborn genetic diseases 2023-04-25 criteria provided, single submitter clinical testing The c.2683C>T (p.H895Y) alteration is located in exon 21 (coding exon 19) of the IFT140 gene. This alteration results from a C to T substitution at nucleotide position 2683, causing the histidine (H) at amino acid position 895 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005005969 SCV005642776 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-01-29 criteria provided, single submitter clinical testing

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