ClinVar Miner

Submissions for variant NM_001371623.1(TCOF1):c.1637_1640del (p.Glu546fs)

dbSNP: rs587776583
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000114943 SCV000658948 pathogenic Treacher Collins syndrome 1 2017-02-13 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. While this particular variant has not been reported in the literature, loss-of-function variants in TCOF1 are known to be pathogenic (PMID: 22317976, 8894686). This sequence change deletes 4 nucleotides from exon 11 of the TCOF1 mRNA (c.1637_1640delAGAG), causing a frameshift at codon 546. This creates a premature translational stop signal (p.Glu546Alafs*49) and is expected to result in an absent or disrupted protein product.
OMIM RCV000114943 SCV000148845 pathogenic Treacher Collins syndrome 1 2013-11-01 no assertion criteria provided literature only

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