ClinVar Miner

Submissions for variant NM_000158.4(GBE1):c.476C>T (p.Pro159Leu)

gnomAD frequency: 0.00001  dbSNP: rs1559676007
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806321 SCV002053834 pathogenic Glycogen storage disease, type IV criteria provided, single submitter clinical testing
Ambry Genetics RCV004040919 SCV004874564 uncertain significance Inborn genetic diseases 2024-02-20 criteria provided, single submitter clinical testing The c.476C>T (p.P159L) alteration is located in exon 4 (coding exon 4) of the GBE1 gene. This alteration results from a C to T substitution at nucleotide position 476, causing the proline (P) at amino acid position 159 to be replaced by a leucine (L). Based on data from gnomAD, the T allele has an overall frequency of <0.001% (1/248106) total alleles studied. The highest observed frequency was 0.001% (1/112522) of European (non-Finnish) alleles. This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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