ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2516C>T (p.Ala839Val)

gnomAD frequency: 0.00004  dbSNP: rs145609033
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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 RCV001366478 SCV001562780 uncertain significance Saldino-Mainzer syndrome 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 839 of the IFT140 protein (p.Ala839Val). This variant is present in population databases (rs145609033, 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: 1057487). 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.
Fulgent Genetics, Fulgent Genetics RCV002488132 SCV002788532 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2024-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV004988603 SCV005604224 uncertain significance Inborn genetic diseases 2024-08-28 criteria provided, single submitter clinical testing The c.2516C>T (p.A839V) alteration is located in exon 20 (coding exon 18) of the IFT140 gene. This alteration results from a C to T substitution at nucleotide position 2516, causing the alanine (A) at amino acid position 839 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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