Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000915896 | SCV000329397 | likely benign | not provided | 2018-04-26 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000766052 | SCV000897508 | uncertain significance | Non-acquired combined pituitary hormone deficiency with spine abnormalities | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000915896 | SCV001061119 | uncertain significance | not provided | 2022-10-31 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 3 of the LHX3 protein (p.Ala3Val). This variant is present in population databases (rs375579333, gnomAD 0.1%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with LHX3-related conditions. ClinVar contains an entry for this variant (Variation ID: 279836). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Illumina Laboratory Services, |
RCV000766052 | SCV001329093 | uncertain significance | Non-acquired combined pituitary hormone deficiency with spine abnormalities | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance. |
Natera, |
RCV001274348 | SCV001458358 | uncertain significance | Combined pituitary hormone deficiencies, genetic form | 2020-01-17 | no assertion criteria provided | clinical testing | |
Genetic Services Laboratory, |
RCV003151004 | SCV003839673 | likely benign | not specified | 2022-12-19 | no assertion criteria provided | clinical testing |