ClinVar Miner

Submissions for variant NM_000314.7(PTEN):c.1130A>T (p.Tyr377Phe) (rs751286806)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166044 SCV000216805 uncertain significance Hereditary cancer-predisposing syndrome 2016-10-26 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000468562 SCV000541588 uncertain significance PTEN hamartoma tumor syndrome 2019-07-10 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with phenylalanine at codon 377 of the PTEN protein (p.Tyr377Phe). The tyrosine residue is moderately conserved and there is a small physicochemical difference between tyrosine and phenylalanine. While this variant is present in population databases (rs751286806), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a PTEN-related disease. ClinVar contains an entry for this variant (Variation ID: 186450). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000166044 SCV000686272 uncertain significance Hereditary cancer-predisposing syndrome 2019-11-06 criteria provided, single submitter clinical testing

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