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

dbSNP: rs1060503844

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001394845	SCV001596536	likely benign	PTEN hamartoma tumor syndrome	2025-01-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV003584618	SCV004359780	likely benign	Hereditary cancer-predisposing syndrome	2022-01-28	criteria provided, single submitter	clinical testing