ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.996_999del (p.Gln333fs)

dbSNP: rs398123229
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078308 SCV000110148 pathogenic not provided 2013-08-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001389325 SCV001590648 pathogenic Fabry disease 2020-10-09 criteria provided, single submitter clinical testing This variant disrupts the C-terminus of the GLA protein. Other variant(s) that disrupt this region (p.Arg342*) have been determined to be pathogenic (PMID: 8395937, 16595074, 19287194, 20505683, 23980562, 26297554). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has been observed in individual(s) with Fabry disease (PMID: 12175777, 27560961). ClinVar contains an entry for this variant (Variation ID: 92575). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the GLA gene (p.Gln333Glufs*14). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 97 amino acid(s) of the GLA protein.
Genome-Nilou Lab RCV001389325 SCV002054387 pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing

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