ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2129G>T (p.Ser710Ile)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002795199 SCV003021560 uncertain significance Saldino-Mainzer syndrome 2022-07-20 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with IFT140-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 710 of the IFT140 protein (p.Ser710Ile).
Ambry Genetics RCV004064660 SCV004886173 uncertain significance Inborn genetic diseases 2024-01-23 criteria provided, single submitter clinical testing The c.2129G>T (p.S710I) alteration is located in exon 18 (coding exon 16) of the IFT140 gene. This alteration results from a G to T substitution at nucleotide position 2129, causing the serine (S) at amino acid position 710 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005008744 SCV005642817 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-04-10 criteria provided, single submitter clinical testing

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