ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.4079C>T (p.Pro1360Leu)

gnomAD frequency: 0.00014  dbSNP: rs541861585
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000993288 SCV001146131 uncertain significance not provided 2018-09-17 criteria provided, single submitter clinical testing
GeneDx RCV000993288 SCV001982200 uncertain significance not provided 2025-01-23 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
Labcorp Genetics (formerly Invitae), Labcorp RCV001858774 SCV002210564 uncertain significance Treacher Collins syndrome 1 2025-01-07 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1359 of the TCOF1 protein (p.Pro1359Leu). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with TCOF1-related conditions. ClinVar contains an entry for this variant (Variation ID: 805644). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV003243389 SCV003943597 uncertain significance Inborn genetic diseases 2023-05-09 criteria provided, single submitter clinical testing The c.4076C>T (p.P1359L) alteration is located in exon 24 (coding exon 24) of the TCOF1 gene. This alteration results from a C to T substitution at nucleotide position 4076, causing the proline (P) at amino acid position 1359 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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