ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp)

dbSNP: rs150515238
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000115648 SCV000149557 uncertain significance not provided 2023-02-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32210335, 11574484, 30787465)
Counsyl RCV000411537 SCV000487856 uncertain significance Lynch syndrome 4 2015-11-23 criteria provided, single submitter clinical testing
Invitae RCV000458229 SCV000552038 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-11-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565848 SCV000670863 uncertain significance Hereditary cancer-predisposing syndrome 2022-07-26 criteria provided, single submitter clinical testing The p.E347D variant (also known as c.1041G>C), located in coding exon 10 of the PMS2 gene, results from a G to C substitution at nucleotide position 1041. The glutamic acid at codon 347 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Color Diagnostics, LLC DBA Color Health RCV000565848 SCV001353141 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-21 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with aspartic acid at codon 347 of the PMS2 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with Lynch syndrome (PMID: 31350202). This variant has been identified in 11/251116 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Myriad Genetics, Inc. RCV000411537 SCV004019980 uncertain significance Lynch syndrome 4 2023-04-05 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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