ClinVar Miner

Submissions for variant NM_005271.5(GLUD1):c.635A>G (p.Lys212Arg)

gnomAD frequency: 0.00001  dbSNP: rs761375132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001052532 SCV001216744 likely benign Hyperinsulinism-hyperammonemia syndrome 2022-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003160411 SCV003913386 uncertain significance Inborn genetic diseases 2023-02-05 criteria provided, single submitter clinical testing The p.K212R variant (also known as c.635A>G), located in coding exon 4 of the GLUD1 gene, results from an A to G substitution at nucleotide position 635. The lysine at codon 212 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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