ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.2064del (p.Leu687_Tyr688insTer)

gnomAD frequency: 0.00001  dbSNP: rs1726209700
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946822 SCV002238138 pathogenic not provided 2021-10-02 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This sequence change creates a premature translational stop signal (p.Tyr688*) in the GFM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GFM1 are known to be pathogenic (PMID: 16632485, 17160893). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with GFM1-related conditions. For these reasons, this variant has been classified as Pathogenic.

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