ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.80-8del (rs1060503844)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474550 SCV000554536 likely benign not provided 2016-06-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001174905 SCV001338335 uncertain significance not specified 2020-02-25 criteria provided, single submitter clinical testing Variant summary: PTEN c.80-8delG alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 3/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 250370 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.80-8delG in individuals affected with Cowden Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One ClinVar submitter (evaluation after 2014) cite the variant as likely benign. Based on the evidence outlined above, the variant was classified as uncertain significance.
Invitae RCV001394845 SCV001596536 likely benign PTEN hamartoma tumor syndrome 2016-05-28 criteria provided, single submitter clinical testing

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