ClinVar Miner

Submissions for variant NM_000314.8(PTEN):c.55G>A (p.Asp19Asn)

dbSNP: rs121909233
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001228979 SCV001401409 uncertain significance PTEN hamartoma tumor syndrome 2019-08-01 criteria provided, single submitter clinical testing 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. 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. This sequence change replaces aspartic acid with asparagine at codon 19 of the PTEN protein (p.Asp19Asn). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PTEN-related conditions. ClinVar contains an entry for this variant (Variation ID: 7837).
All of Us Research Program, National Institutes of Health RCV001228979 SCV004831592 uncertain significance PTEN hamartoma tumor syndrome 2023-06-26 criteria provided, single submitter clinical testing This missense variant replaces aspartic acid with asparagine at codon 19 of the PTEN protein. To our knowledge, functional studies have not been reported for this variant. This variant has been reported in an individual affected with metastatic melanoma (PMID: 10978354) and an individual affected with small intestine cancer (PMID: 31653154). Both of these individuals carried co-variants in different genes. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
OMIM RCV000008285 SCV000028492 pathogenic Melanoma 2000-09-01 no assertion criteria provided literature only

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