ClinVar Miner

Submissions for variant NM_002633.3(PGM1):c.987C>T (p.Arg329=)

gnomAD frequency: 0.00038  dbSNP: rs79097301
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000876492 SCV001019071 benign PGM1-congenital disorder of glycosylation 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000876492 SCV001258078 benign PGM1-congenital disorder of glycosylation 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
PreventionGenetics, part of Exact Sciences RCV003938368 SCV004752582 benign PGM1-related condition 2019-07-12 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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