ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.55C>T (p.Pro19Ser)

dbSNP: rs1477242482
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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 RCV002005538 SCV002269627 uncertain significance Neurofibromatosis, type 2 2024-12-06 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 19 of the NF2 protein (p.Pro19Ser). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with NF2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1484088). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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 RCV002344167 SCV002651402 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-07 criteria provided, single submitter clinical testing The p.P19S variant (also known as c.55C>T), located in coding exon 1 of the NF2 gene, results from a C to T substitution at nucleotide position 55. The proline at codon 19 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004571894 SCV005052384 uncertain significance Familial meningioma 2023-11-02 criteria provided, single submitter clinical testing

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