ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2876G>A (p.Arg959Gln)

gnomAD frequency: 0.00007  dbSNP: rs148240226
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001301469 SCV001490639 likely benign Saldino-Mainzer syndrome 2024-09-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV003346440 SCV004058938 uncertain significance Inborn genetic diseases 2023-08-21 criteria provided, single submitter clinical testing The c.2876G>A (p.R959Q) alteration is located in exon 23 (coding exon 21) of the IFT140 gene. This alteration results from a G to A substitution at nucleotide position 2876, causing the arginine (R) at amino acid position 959 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Dept Of Ophthalmology, Nagoya University RCV003888001 SCV004704976 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005014366 SCV005642763 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-02-09 criteria provided, single submitter clinical testing

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