ClinVar Miner

Submissions for variant NM_006767.3(LZTR1):c.1353+8C>G (rs75959644)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514608 SCV000610501 likely benign not provided 2017-05-30 criteria provided, single submitter clinical testing
GeneDx RCV000604588 SCV000720938 benign not specified 2017-12-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000514608 SCV000698722 benign not provided 2017-07-11 criteria provided, single submitter clinical testing Variant summary: The LZTR1 c.1353+8C>G variant involves the alteration of a non-conserved intronic nucleotide and 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 203/112292 control chromosomes (3 homozygotes), predominantly in the East Asian cohort at a frequency of 0.024024 (197/8200). This frequency is about 4805 times the estimated maximal expected allele frequency of a pathogenic LZTR1 variant (0.000005), suggesting this is likely a benign polymorphism found primarily in population(s) of East Asian origin. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.

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