ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.125_127TAG[1] (p.Val43del) (rs1064794820)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485398 SCV000570006 uncertain significance not provided 2016-04-19 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in PMS2 is denoted c.128_130delTAG at the cDNA level and p.Val43del (V43del) at the protein level. The normal sequence, with the bases that are deleted in braces, is TTAG[TAG]AAAAC. This deletion of a single Valine residue occurs at a position where amino acids with properties similar to Valine are tolerated across species and is located within the ATPase domain (Guarne 2001, Fukui 2011). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time, and we consider PMS2 Val43del to be a variant of uncertain significance.
Ambry Genetics RCV000568948 SCV000663470 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-27 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
Invitae RCV000687320 SCV000814883 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2018-06-05 criteria provided, single submitter clinical testing This variant, c.128_130delTAG, results in the deletion of 1 amino acid of the PMS2 protein (p.Val43del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PMS2-related disease. ClinVar contains an entry for this variant (Variation ID: 420961). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid is currently unknown. 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.

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