ClinVar Miner

Submissions for variant NM_014714.4(IFT140):c.70C>T (p.His24Tyr)

gnomAD frequency: 0.00002  dbSNP: rs939722027
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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 RCV001035060 SCV001198372 uncertain significance Saldino-Mainzer syndrome 2022-11-15 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 446632). This missense change has been observed in individuals with clinical features of IFT140-related conditions (PMID: 29068549; Invitae). This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 24 of the IFT140 protein (p.His24Tyr).
Dan Cohn Lab, University Of California Los Angeles RCV000516117 SCV000612042 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000516117 SCV001479395 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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