ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.1225C>G (p.Pro409Ala)

dbSNP: rs878853698
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Total submissions: 1
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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 RCV000586514 SCV000695732 pathogenic Fabry disease 2017-01-25 criteria provided, single submitter clinical testing Variant summary: The GLA c.1225C>G (p.Pro409Ala) variant involves the alteration of a conserved nucleotide. 5/5 in silico tools predict a damaging outcome for this variant. This variant is absent in 87694 control chromosomes, but has been reported in affected individuals in the literature. Additionally, alpha-Gal activity was reported as <10% in HEK-293 cells bearing this mutation. Taken together, this variant is classified as pathogenic.

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