ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.975G>T (p.Glu325Asp)

gnomAD frequency: 0.00001  dbSNP: rs1330112951
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Biology Laboratory, Fundació Puigvert RCV001281144 SCV001425101 pathogenic Saldino-Mainzer syndrome 2020-02-01 criteria provided, single submitter research
GeneDx RCV001751516 SCV001986583 uncertain significance not provided 2019-07-17 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29801666)
Labcorp Genetics (formerly Invitae), Labcorp RCV001281144 SCV004538974 uncertain significance Saldino-Mainzer syndrome 2023-09-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 325 of the IFT140 protein (p.Glu325Asp). This variant is present in population databases (no rsID available, gnomAD 0.006%). This missense change has been observed in individual(s) with IFT140-related conditions (PMID: 29801666). ClinVar contains an entry for this variant (Variation ID: 974394). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt IFT140 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.

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