ClinVar Miner

Submissions for variant NM_005609.4(PYGM):c.1216G>A (p.Glu406Lys)

gnomAD frequency: 0.00002  dbSNP: rs781394907
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003263920 SCV003968482 uncertain significance Inborn genetic diseases 2023-05-04 criteria provided, single submitter clinical testing The c.1216G>A (p.E406K) alteration is located in exon 10 (coding exon 10) of the PYGM gene. This alteration results from a G to A substitution at nucleotide position 1216, causing the glutamic acid (E) at amino acid position 406 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV001280475 SCV005684162 uncertain significance Glycogen storage disease, type V 2024-05-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001280475 SCV001467657 uncertain significance Glycogen storage disease, type V 2020-04-14 no assertion criteria provided clinical testing

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