ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.1993G>T (p.Ala665Ser)

dbSNP: rs2071240
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001863778 SCV002117555 uncertain significance Treacher Collins syndrome 1 2021-05-18 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TCOF1-related conditions. This variant is present in population databases (rs2071240, ExAC 0.01%). This sequence change replaces alanine with serine at codon 665 of the TCOF1 protein (p.Ala665Ser). The alanine residue is moderately conserved and there is a moderate physicochemical difference between alanine and serine.
GeneDx RCV002243474 SCV002513131 uncertain significance not provided 2022-05-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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