ClinVar Miner

Submissions for variant NM_001159773.2(CANT1):c.277_278del (p.Leu93fs)

gnomAD frequency: 0.00006  dbSNP: rs587776897
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724659 SCV000227546 pathogenic not provided 2015-03-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV000622333 SCV000742795 pathogenic Inborn genetic diseases 2017-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000724659 SCV003300148 pathogenic not provided 2024-01-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu93Valfs*89) in the CANT1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CANT1 are known to be pathogenic (PMID: 19853239, 21037275, 22539336). This variant is present in population databases (rs587776897, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with Desbuquois dysplasia (PMID: 21654728). ClinVar contains an entry for this variant (Variation ID: 31015). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000724659 SCV005325088 pathogenic not provided 2023-12-24 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; This variant is associated with the following publications: (PMID: 21654728, 31510824, 37107695, 34602954)
OMIM RCV000024007 SCV000045298 pathogenic Desbuquois dysplasia 1 2011-11-01 no assertion criteria provided literature only

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