ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.3053G>T (p.Arg1018Ile)

gnomAD frequency: 0.00002  dbSNP: rs532465195
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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 RCV001469766 SCV001673854 likely benign Treacher Collins syndrome 1 2022-02-04 criteria provided, single submitter clinical testing
GeneDx RCV003442132 SCV004169166 uncertain significance not provided 2023-04-17 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 RCV004029626 SCV004961957 uncertain significance Inborn genetic diseases 2023-09-23 criteria provided, single submitter clinical testing The c.3053G>T (p.R1018I) alteration is located in exon 19 (coding exon 19) of the TCOF1 gene. This alteration results from a G to T substitution at nucleotide position 3053, causing the arginine (R) at amino acid position 1018 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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