ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.622_623del (p.Met208fs)

dbSNP: rs1064796601
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482707 SCV000573460 pathogenic not provided 2017-02-13 criteria provided, single submitter clinical testing The c.622_623delAT pathogenic variant in the GLA gene causes a frameshift starting with codon Methionine 208, changes this amino acid to a Valine residue and creates a premature Stop codon at position 23 of the new reading frame, denoted p.Met208ValfsX23. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay.
Eurofins Ntd Llc (ga) RCV000482707 SCV000706874 pathogenic not provided 2017-03-09 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001807259 SCV002054427 pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing

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