ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.366C>T (p.Phe122=)

gnomAD frequency: 0.00027  dbSNP: rs145714866
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000280043 SCV000331235 likely benign not specified 2016-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000280043 SCV000523283 likely benign not specified 2017-11-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000877168 SCV001019860 benign PMM2-congenital disorder of glycosylation 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000877168 SCV001279854 likely benign PMM2-congenital disorder of glycosylation 2017-04-28 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Fulgent Genetics, Fulgent Genetics RCV000877168 SCV002805920 likely benign PMM2-congenital disorder of glycosylation 2021-08-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930037 SCV004738076 likely benign PMM2-related condition 2024-01-21 criteria provided, single submitter 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).
Natera, Inc. RCV000877168 SCV002089477 benign PMM2-congenital disorder of glycosylation 2019-12-09 no assertion criteria provided clinical testing

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