ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.4267G>A (p.Val1423Met)

gnomAD frequency: 0.00001  dbSNP: rs756711276
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001304181 SCV001493453 uncertain significance Saldino-Mainzer syndrome 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 1423 of the IFT140 protein (p.Val1423Met). This variant is present in population databases (rs756711276, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. ClinVar contains an entry for this variant (Variation ID: 1007047). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IFT140 protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002499568 SCV002776381 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2021-10-16 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003888005 SCV004704940 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research

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