ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.59_84del (p.Ala20fs)

dbSNP: rs1555987162
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000597474 SCV000702436 pathogenic not provided 2018-07-19 criteria provided, single submitter clinical testing
Invitae RCV003621552 SCV004536066 pathogenic Fabry disease 2022-12-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 497744). This variant is also known as 1238del26. This premature translational stop signal has been observed in individual(s) with Fabry disease (PMID: 10649504). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala20Glyfs*2) 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).

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