ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.1298C>T (p.Ala433Val)

gnomAD frequency: 0.00006  dbSNP: rs375265976
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003184785 SCV003876721 uncertain significance Inborn genetic diseases 2023-01-10 criteria provided, single submitter clinical testing The c.1298C>T (p.A433V) alteration is located in exon 10 (coding exon 10) of the TCOF1 gene. This alteration results from a C to T substitution at nucleotide position 1298, causing the alanine (A) at amino acid position 433 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003530291 SCV004313352 likely benign Treacher Collins syndrome 1 2023-08-04 criteria provided, single submitter clinical testing
GeneDx RCV005235700 SCV005882377 uncertain significance not provided 2024-09-05 criteria provided, single submitter clinical testing In silico analysis indicates 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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