ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2372C>G (p.Ala791Gly)

gnomAD frequency: 0.00002  dbSNP: rs758544371
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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 RCV001364023 SCV001560155 uncertain significance Saldino-Mainzer syndrome 2022-08-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 791 of the IFT140 protein (p.Ala791Gly). This variant is present in population databases (rs758544371, gnomAD 0.007%). 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: 1055368). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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 RCV002493858 SCV002776667 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-01-10 criteria provided, single submitter clinical testing

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