ClinVar Miner

Submissions for variant NM_001244710.1(GFPT1):c.686-2A>G (rs1011196447)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650361 SCV000772204 pathogenic Congenital myasthenic syndrome 12 2019-08-30 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 8 of the GFPT1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous and in combination with another GFPT1 variant in individuals affected with congenital myasthenic syndrome (CMS) (PMID: 23794683, 28464723, 29054425). ClinVar contains an entry for this variant (Variation ID: 540353). Experimental studies have shown that this acceptor site change results in the deletion of the first 4 nucleotides of the muscle-specific exon of GFPT1 and in premature truncation after 56 amino acids (PMID: 23794683). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GFPT1 are known to be pathogenic (PMID: 23794683). For these reasons, this variant has been classified as Pathogenic.
Kariminejad - Najmabadi Pathology & Genetics Center RCV000788080 SCV000927078 pathogenic Congenital myasthenic syndrome 2018-11-24 criteria provided, single submitter clinical testing

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