ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.686_694del (p.Leu229_Ser232delinsPro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001390645 SCV001592446 pathogenic Galactosylceramide beta-galactosidase deficiency 2020-02-11 criteria provided, single submitter clinical testing This variant, c.683_694delinsCTC, results in the deletion of 5 and insertion of 2 amino acid(s) of the GALC protein (p.Asn228_Ser232delinsThrPro), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Krabbe disease (PMID: 8595408, 27679535, 27780934, 29615819). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. This variant is also known as 635_646del12insCTC (212-216delNLWES/insTP) in the literature. This variant has been reported to affect GALC protein function (PMID: 29615819). For these reasons, this variant has been classified as Pathogenic.

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