ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.2103_2106del (p.Ser701fs)

dbSNP: rs2150736647
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001383031 SCV001582039 pathogenic Treacher Collins syndrome 1 2020-03-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in TCOF1 are known to be pathogenic (PMID: 8894686, 22317976). This variant has been observed in individual(s) with Treacher Collins syndrome (PMID: 12114482, 20003452, 22317976, 24994558). In at least one individual the variant was observed to be de novo. This variant is also known as c.1872_1875delTGAG in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser701Argfs*9) in the TCOF1 gene. It is expected to result in an absent or disrupted protein product.
GeneDx RCV002281186 SCV002569615 pathogenic not provided 2022-03-08 criteria provided, single submitter clinical testing Identified in a patients with Treacher Collins syndrome in published literature, described as c.1872_1875delTGAG using alternate nomenclature in some cases, however, detailed clinical information is not available (Splendore et al., 2002; Masotti et al., 2009; Bowman et al., 2012; Wang et al., 2014); 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 at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22317976, 20003452, 12114482, 24994558)

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