ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1229A>G (p.Asn410Ser)

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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 RCV003176580 SCV003861182 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2022-11-06 criteria provided, single submitter clinical testing The p.N410S variant (also known as c.1229A>G), located in coding exon 11 of the LZTR1 gene, results from an A to G substitution at nucleotide position 1229. The asparagine at codon 410 is replaced by serine, an amino acid with highly similar properties. This amino acid position is conserved. 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 RCV003466029 SCV004191298 uncertain significance Schwannomatosis 2 2023-08-11 criteria provided, single submitter clinical testing

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