ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.3695A>G (p.Glu1232Gly)

gnomAD frequency: 0.00004  dbSNP: rs774000109
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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 RCV001204745 SCV001375965 uncertain significance Saldino-Mainzer syndrome 2022-06-22 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1232 of the IFT140 protein (p.Glu1232Gly). This variant is present in population databases (rs774000109, gnomAD 0.02%). 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: 936029). 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: "Possibly 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.
Ambry Genetics RCV004986941 SCV005604231 uncertain significance Inborn genetic diseases 2024-09-10 criteria provided, single submitter clinical testing The c.3695A>G (p.E1232G) alteration is located in exon 28 (coding exon 26) of the IFT140 gene. This alteration results from a A to G substitution at nucleotide position 3695, causing the glutamic acid (E) at amino acid position 1232 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005012603 SCV005642717 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-04-20 criteria provided, single submitter clinical testing

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