ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.326A>G (p.Asn109Ser)

gnomAD frequency: 0.00019  dbSNP: rs142477153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001591971 SCV001826279 likely benign not provided 2021-01-26 criteria provided, single submitter clinical testing Observed in a patient with Alzheimer disease in a an Alzheimer disease risk study (He et al., 2017); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 28065470)
Labcorp Genetics (formerly Invitae), Labcorp RCV003106242 SCV003779979 uncertain significance Treacher Collins syndrome 1 2024-01-05 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 109 of the TCOF1 protein (p.Asn109Ser). This variant is present in population databases (rs142477153, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TCOF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1218129). 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 TCOF1 protein function with a negative predictive value of 80%. 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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