ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.4221dup (p.Ser1408fs)

dbSNP: rs1561540623
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000698090 SCV000826733 pathogenic Treacher Collins syndrome 1 2022-10-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 575776). This variant is also known as 3987_3988insG. This premature translational stop signal has been observed in individual(s) with Treacher Collins syndrome (PMID: 11013442, 15340364, 22317976). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser1407Valfs*23) in the TCOF1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TCOF1 are known to be pathogenic (PMID: 8894686, 22317976).
GeneDx RCV001559961 SCV001782289 pathogenic not provided 2020-06-19 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 33332773, 15340364, 11013442, 20003452, 22317976)
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000698090 SCV001469278 pathogenic Treacher Collins syndrome 1 2020-08-07 no assertion criteria provided clinical testing

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