ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.453C>G (p.Tyr151Ter)

dbSNP: rs869312305
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeMIA RCV001374743 SCV001571671 pathogenic Fabry disease criteria provided, single submitter clinical testing The c.453C>G (p.Tyr151Ter) variant, located in exon 3 of the GLA gene, was identified in three members (1 hemizygous male, 2 heterozygous females) of a greek family affected with Fabry disease. The variant causes interruption of the reading frame by the formation of a termination codon which results in a truncated protein. It was not detected amongst the 31360 individuals of the Genome Aggregation Database (gnomAD), indicating that it is not a common variant. Taking all the above into account and according to ACMG Guidelines (Criteria:PVS1, PM2, PP1, PP4) the variant is considered pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001374743 SCV005841039 pathogenic Fabry disease 2024-06-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr151*) in the GLA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLA are known to be pathogenic (PMID: 10666480, 12175777). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Fabry disease (PMID: 15712228). ClinVar contains an entry for this variant (Variation ID: 1064716). For these reasons, this variant has been classified as Pathogenic.

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