ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.226G>A (p.Glu76Lys) (rs778447883)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437856 SCV000520538 uncertain significance not provided 2017-01-25 criteria provided, single submitter clinical testing The E76K variant in the GALC gene has been reported in 3 alleles among 348 infants with low GALC activity detected by New York state newborn screening. However, the heterozygous or homozygous status of these alleles was not provided (Orsini et al., 2016). The E76K variant was not observed in approximately 5900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E76K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret E76K as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000765182 SCV000896417 uncertain significance Galactosylceramide beta-galactosidase deficiency 2018-10-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV000765182 SCV001454077 uncertain significance Galactosylceramide beta-galactosidase deficiency 2020-09-16 no assertion criteria provided clinical testing

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