ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.1023del (p.Glu341fs)

dbSNP: rs886044909
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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) RCV000329700 SCV000345899 pathogenic not provided 2016-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001388197 SCV001589069 pathogenic Fabry disease 2020-12-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the GLA protein. Other variant(s) that disrupt this region (p.Ser345Argfs*29) have been determined to be pathogenic (PMID: 8931708, 23935525, Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with GLA-related conditions. ClinVar contains an entry for this variant (Variation ID: 291188). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu341Aspfs*7) in the GLA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 89 amino acid(s) of the GLA protein.
Genome-Nilou Lab RCV001388197 SCV002054383 pathogenic Fabry disease 2021-07-15 criteria provided, single submitter clinical testing

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