ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.937T>A (p.Cys313Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003476462 SCV004191230 uncertain significance Schwannomatosis 2 2023-10-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV004560175 SCV005048079 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2024-01-22 criteria provided, single submitter clinical testing The p.C313S variant (also known as c.937T>A), located in coding exon 9 of the LZTR1 gene, results from a T to A substitution at nucleotide position 937. The cysteine at codon 313 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this alteration remains unclear.

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