ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.25_26delinsTT (p.Gly9Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002431095 SCV002742763 uncertain significance Hereditary cancer-predisposing syndrome; Cardiovascular phenotype 2021-01-12 criteria provided, single submitter clinical testing The c.25_26delGGinsTT variant, located in coding exon 1 of the LZTR1 gene, results from an in-frame deletion of GG and insertion of TT at nucleotide positions 25 to 26. This results in the substitution of the glycine residue for a leucine residue at codon 9, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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