ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.127G>A (p.Val43Met)

gnomAD frequency: 0.00002  dbSNP: rs150649451
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001971448 SCV002259825 uncertain significance Saldino-Mainzer syndrome 2022-10-13 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 43 of the IFT140 protein (p.Val43Met). This variant is present in population databases (rs150649451, gnomAD 0.01%). 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: 1477149). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 RCV002492208 SCV002784994 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-05-21 criteria provided, single submitter clinical testing

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