ClinVar Miner

Submissions for variant NM_006767.4(LZTR1):c.1615+2T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV004529820 SCV004111147 pathogenic LZTR1-related disorder 2022-12-27 criteria provided, single submitter clinical testing The LZTR1 c.1615+2T>C variant is predicted to disrupt the GT donor site and interfere with normal splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 1 of ~230,000 alleles in gnomAD (http://gnomad.broadinstitute.org/variant/22-21348560-T-C). Variants that disrupt the consensus splice donor site in LZTR1 are expected to be pathogenic. This variant is interpreted as pathogenic.
Baylor Genetics RCV003459855 SCV004193691 likely pathogenic LZTR1-related schwannomatosis 2022-12-23 criteria provided, single submitter clinical testing

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