ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.113C>T (p.Ala38Val) (rs148270248)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167349 SCV000218201 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-24 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000229343 SCV000285045 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-12-16 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 38 of the PMS2 protein (p.Ala38Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs148270248, ExAC 0.02%). This variant has been observed in an individual with endometrial cancer (Invitae). However, in that individual a pathogenic allele was also identified in PMS2, which suggests that this c.113C>T variant was not the primary cause of disease. ClinVar contains an entry for this variant (Variation ID: 187605). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000167349 SCV000686095 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759911 SCV000889606 uncertain significance not provided 2019-01-27 criteria provided, single submitter clinical testing
Mendelics RCV000987853 SCV001137332 uncertain significance Hereditary nonpolyposis colorectal cancer type 4 2019-05-28 criteria provided, single submitter clinical testing

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