Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514608 | SCV000610501 | likely benign | not provided | 2017-05-30 | criteria provided, single submitter | clinical testing | |
Women's Health and 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. |
Gene |
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. |
Invitae | RCV000514608 | SCV001016186 | benign | not provided | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813489 | SCV002060527 | benign | Noonan syndrome and Noonan-related syndrome | 2021-06-17 | criteria provided, single submitter | clinical testing |