ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.414del (p.Glu139fs)

dbSNP: rs755008774
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000408989 SCV000485551 likely pathogenic PMM2-congenital disorder of glycosylation 2015-12-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000408989 SCV002806268 likely pathogenic PMM2-congenital disorder of glycosylation 2022-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000408989 SCV003035057 pathogenic PMM2-congenital disorder of glycosylation 2023-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu139Lysfs*15) in the PMM2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMM2 are known to be pathogenic (PMID: 19862844). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with PMM2-related conditions. ClinVar contains an entry for this variant (Variation ID: 370287). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002524618 SCV003556231 pathogenic Inborn genetic diseases 2021-06-25 criteria provided, single submitter clinical testing The c.414delA (p.E139Kfs*15) alteration, located in exon 5 (coding exon 5) of the PMM2 gene, consists of a deletion of one nucleotide at position 414, causing a translational frameshift with a predicted alternate stop codon after 15 amino acids. Frameshift alterations are typically deleterious in nature (Richards, 2015). Based on the available evidence, this alteration is classified as pathogenic.
Baylor Genetics RCV000408989 SCV004204828 likely pathogenic PMM2-congenital disorder of glycosylation 2023-10-30 criteria provided, single submitter clinical testing

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