ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.801+8C>G

gnomAD frequency: 0.00001  dbSNP: rs1057517630
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410432 SCV000489653 likely benign Cowden syndrome 1 2016-10-31 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000464000 SCV000554540 likely benign PTEN hamartoma tumor syndrome 2024-12-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000775839 SCV000910308 likely benign Hereditary cancer-predisposing syndrome 2018-01-29 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193511 SCV001362397 likely benign not specified 2025-04-28 criteria provided, single submitter clinical testing Variant summary: PTEN c.801+8C>G 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. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-06 in 251272 control chromosomes. 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.801+8C>G in individuals affected with Cowden Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. The following publications have been ascertained in the context of this evaluation (PMID: 23349303, 19458356, 19829307, 19340001, 26773036, 17873882, 22491738). ClinVar contains an entry for this variant (Variation ID: 372052). Based on the evidence outlined above, the variant was classified as likely benign.
Myriad Genetics, Inc. RCV000410432 SCV004019976 likely benign Cowden syndrome 1 2023-04-05 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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