ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.835C>A (p.Pro279Thr)

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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 RCV004561224 SCV005048046 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-03-17 criteria provided, single submitter clinical testing The p.P279T variant (also known as c.835C>A), located in coding exon 9 of the LZTR1 gene, results from a C to A substitution at nucleotide position 835. The proline at codon 279 is replaced by threonine, an amino acid with highly 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 RCV004573498 SCV005060633 uncertain significance Schwannomatosis 2 2024-02-22 criteria provided, single submitter clinical testing

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