ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.3785G>T (p.Gly1262Val)

gnomAD frequency: 0.00011  dbSNP: rs375337164
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002269511 SCV002552783 uncertain significance not provided 2022-07-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003355841 SCV004055531 uncertain significance Inborn genetic diseases 2023-09-13 criteria provided, single submitter clinical testing The c.3782G>T (p.G1261V) alteration is located in exon 24 (coding exon 24) of the TCOF1 gene. This alteration results from a G to T substitution at nucleotide position 3782, causing the glycine (G) at amino acid position 1261 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003896100 SCV004709420 likely benign TCOF1-related disorder 2023-05-08 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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