ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2407G>A (p.Val803Ile)

gnomAD frequency: 0.00008  dbSNP: rs538791217
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001327727 SCV001518814 likely benign Saldino-Mainzer syndrome 2025-01-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002486323 SCV002787325 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-02-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169540 SCV003867964 uncertain significance Inborn genetic diseases 2023-02-22 criteria provided, single submitter clinical testing The c.2407G>A (p.V803I) alteration is located in exon 20 (coding exon 18) of the IFT140 gene. This alteration results from a G to A substitution at nucleotide position 2407, causing the valine (V) at amino acid position 803 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692517 SCV005194101 uncertain significance not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003405554 SCV004115276 uncertain significance IFT140-related disorder 2024-07-03 no assertion criteria provided clinical testing The IFT140 c.2407G>A variant is predicted to result in the amino acid substitution p.Val803Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of Latino descent with one homozygote in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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