ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) (rs375867319)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000726405 SCV000344419 likely pathogenic not provided 2016-08-26 criteria provided, single submitter clinical testing
Invitae RCV000324608 SCV000627127 pathogenic Galactosylceramide beta-galactosidase deficiency 2020-05-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 514 of the GALC protein (p.Phe514Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with with Krabbe disease (PMID: 9338580, Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. The variant is also known as p.Phe498Ser in the literature. ClinVar contains an entry for this variant (Variation ID: 289955). This variant has been reported to affect GALC protein function (PMID: 27638593). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000726405 SCV001714487 likely pathogenic not provided 2019-06-09 criteria provided, single submitter clinical testing PM2, PM3, PP3, PP4, PP5
Natera, Inc. RCV000324608 SCV001454064 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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