ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.952C>G (p.Pro318Ala) (rs1057516642)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000412229 SCV000485997 likely pathogenic Galactosylceramide beta-galactosidase deficiency 2016-03-21 criteria provided, single submitter clinical testing
Invitae RCV000412229 SCV001588957 pathogenic Galactosylceramide beta-galactosidase deficiency 2020-08-14 criteria provided, single submitter clinical testing This sequence change replaces proline with alanine at codon 318 of the GALC protein (p.Pro318Ala). The proline residue is highly conserved and there is a small physicochemical difference between proline and alanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Krabbe disease (PMID: 24252386). This variant is also known as p.Pro302Ala in the literature. ClinVar contains an entry for this variant (Variation ID: 370631). Advanced modeling of experimental studies (such as gene expression, population dynamics, functional pathways, and cell-cycle effects in cell culture) performed at Invitae indicates that this missense variant is expected to disrupt GALC protein function. Experimental studies have shown that this variant affects GALC protein function (PMID: 8595408, 29615819). For these reasons, this variant has been classified as Pathogenic.

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