ClinVar Miner

Submissions for variant NM_000268.4(NF2):c.1577T>C (p.Val526Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003377667 SCV004098380 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-24 criteria provided, single submitter clinical testing The p.V526A variant (also known as c.1577T>C), located in coding exon 15 of the NF2 gene, results from a T to C substitution at nucleotide position 1577. The valine at codon 526 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004572957 SCV005052361 uncertain significance Familial meningioma 2024-03-24 criteria provided, single submitter clinical testing

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