ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4309G>A (p.Glu1437Lys)

gnomAD frequency: 0.00009  dbSNP: rs201642067
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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 RCV001061980 SCV001226749 likely benign Saldino-Mainzer syndrome 2025-01-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV003283944 SCV004004878 uncertain significance Inborn genetic diseases 2023-04-14 criteria provided, single submitter clinical testing The c.4309G>A (p.E1437K) alteration is located in exon 31 (coding exon 29) of the IFT140 gene. This alteration results from a G to A substitution at nucleotide position 4309, causing the glutamic acid (E) at amino acid position 1437 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Dept Of Ophthalmology, Nagoya University RCV003890211 SCV004704938 likely benign Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV005021403 SCV005642688 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-06-20 criteria provided, single submitter clinical testing

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