ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.295dup (p.Gln99fs)

dbSNP: rs886039136
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000242631 SCV000320277 pathogenic Cardiovascular phenotype 2015-09-29 criteria provided, single submitter clinical testing The c.295dupC pathogenic mutation, located in coding exon 2 of the GLA gene, results from a duplication of C at nucleotide position 295, causing a translational frameshift with a predicted alternate stop codon (p.Q99Pfs*24). Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Eurofins Ntd Llc (ga) RCV000384832 SCV000339554 pathogenic not provided 2016-02-03 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807204 SCV002054447 pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing

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