ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.59C>T (p.Ala20Val)

gnomAD frequency: 0.00003  dbSNP: rs777505318
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000973789 SCV001121565 benign Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2025-01-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV004973215 SCV005594924 uncertain significance Inborn genetic diseases 2024-10-04 criteria provided, single submitter clinical testing The p.A20V variant (also known as c.59C>T), located in coding exon 1 of the G6PC3 gene, results from a C to T substitution at nucleotide position 59. The alanine at codon 20 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
PreventionGenetics, part of Exact Sciences RCV003918535 SCV004731245 likely benign G6PC3-related disorder 2021-10-22 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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