ClinVar Miner

Submissions for variant NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) (rs78290141)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000485565 SCV000232515 uncertain significance not provided 2014-06-10 criteria provided, single submitter clinical testing
GeneDx RCV000485565 SCV000568194 likely pathogenic not provided 2017-02-07 criteria provided, single submitter clinical testing The N216S variant in the PMM2 gene has been reported previously in association with CDG Type 1a (Erlandson et al., 2001; Bjursell et al., 2000; Matthjis et al., 2000). This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The N216S variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. A missense variant at the same codon (N216I) has been previously reported in association with CDG Type 1a (Matthijs et al., 1997), supporting the functional importance of this residue of the protein. The N216S variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Counsyl RCV000675138 SCV000800726 uncertain significance Congenital disorder of glycosylation, type Ia 2017-09-26 no assertion criteria provided clinical testing

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