ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.104C>T (p.Ser35Leu)

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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 RCV004560882 SCV005048915 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2023-10-15 criteria provided, single submitter clinical testing The p.S35L variant (also known as c.104C>T), located in coding exon 1 of the LZTR1 gene, results from a C to T substitution at nucleotide position 104. The serine at codon 35 is replaced by leucine, an amino acid with dissimilar 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 RCV004573495 SCV005060717 uncertain significance Schwannomatosis 2 2023-11-09 criteria provided, single submitter clinical testing

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