ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.866G>A (p.Ser289Asn)

gnomAD frequency: 0.00029  dbSNP: rs188279654
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000981767 SCV001129768 likely benign Treacher Collins syndrome 1 2022-09-22 criteria provided, single submitter clinical testing
GeneDx RCV001615090 SCV001836801 benign not provided 2021-05-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV004030057 SCV004961966 uncertain significance Inborn genetic diseases 2023-12-28 criteria provided, single submitter clinical testing The c.866G>A (p.S289N) alteration is located in exon 7 (coding exon 7) of the TCOF1 gene. This alteration results from a G to A substitution at nucleotide position 866, causing the serine (S) at amino acid position 289 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004746188 SCV005355677 likely benign TCOF1-related disorder 2024-09-03 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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