ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2717G>T (p.Arg906Leu)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept Of Ophthalmology, Nagoya University RCV003889706 SCV004704984 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Ambry Genetics RCV004369722 SCV004886181 uncertain significance Inborn genetic diseases 2023-11-21 criteria provided, single submitter clinical testing The c.2717G>T (p.R906L) alteration is located in exon 21 (coding exon 19) of the IFT140 gene. This alteration results from a G to T substitution at nucleotide position 2717, causing the arginine (R) at amino acid position 906 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005015081 SCV005642772 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-04-28 criteria provided, single submitter clinical testing

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