ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.2455G>A (p.Val819Met)

gnomAD frequency: 0.00001  dbSNP: rs766515079
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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 RCV001209189 SCV001380612 uncertain significance Saldino-Mainzer syndrome 2022-08-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 939744). This variant has not been reported in the literature in individuals affected with IFT140-related conditions. This variant is present in population databases (rs766515079, gnomAD 0.02%). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 819 of the IFT140 protein (p.Val819Met). 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 RCV002484132 SCV002794253 uncertain significance Saldino-Mainzer syndrome; Retinitis pigmentosa 80 2022-02-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004033760 SCV004886178 uncertain significance Inborn genetic diseases 2023-11-09 criteria provided, single submitter clinical testing The c.2455G>A (p.V819M) alteration is located in exon 20 (coding exon 18) of the IFT140 gene. This alteration results from a G to A substitution at nucleotide position 2455, causing the valine (V) at amino acid position 819 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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