Submissions for variant NM_000314.7(PTEN):c.425G>A (p.Arg142Gln) (rs753630034)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000227727	SCV000284592	uncertain significance	PTEN hamartoma tumor syndrome	2018-02-25	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with glutamine at codon 142 of the PTEN protein (p.Arg142Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature as a germline variant in individuals with PTEN-related disease. ClinVar contains an entry for this variant (Variation ID: 237646). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Ambry Genetics	RCV000565516	SCV000666970	uncertain significance	Hereditary cancer-predisposing syndrome	2016-05-05	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color	RCV000565516	SCV000912948	uncertain significance	Hereditary cancer-predisposing syndrome	2018-08-22	criteria provided, single submitter	clinical testing
Gharavi Laboratory,Columbia University	RCV000782196	SCV000920668	uncertain significance	not provided	2018-09-16	no assertion criteria provided	research

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