ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.848dup (p.Met284fs)

dbSNP: rs1555985002
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588224 SCV000695750 likely pathogenic Fabry disease 2017-08-15 criteria provided, single submitter clinical testing Variant summary: The GLA c.848dupA (p.Met284Aspfs) variant results in a premature termination codon, predicted to cause a truncated or absent GLA protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.901C>T, p.Arg301X; c.996_999delACAG, p.Gln333fs). One in silico tool predicts a damaging outcome for this variant. This variant was not found in the large control database gnomAD in 159575 control chromosomes. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as likely pathogenic.
Eurofins Ntd Llc (ga) RCV000730632 SCV000858383 pathogenic not provided 2017-11-27 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000588224 SCV002054396 pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing

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