Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000723791 | SCV000202475 | uncertain significance | not provided | 2014-01-24 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000153029 | SCV000732032 | uncertain significance | not specified | 2017-12-14 | criteria provided, single submitter | clinical testing | The p.Pro2880Leu variant in CHD7 has been reported in at least 1 individual with hypogonadotropic hypogonadism (Kim 2008, Quaynor 2011), but has not been report ed in individuals with hearing loss. It has also been identified in 2/111680 of European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.b roadinstitute.org/; dbSNP rs113938624). Computational prediction tools and conse rvation analysis suggest that the p.Pro2880Leu variant may not impact the protei n, though this information is not predictive enough to rule out pathogenicity. I n summary, the clinical significance of the p.Pro2880Leu variant is uncertain. A CMG/AMP Criteria applied: PM2, BP4. |
Invitae | RCV001219295 | SCV001391228 | likely benign | CHARGE association | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000723791 | SCV001985479 | uncertain significance | not provided | 2023-01-18 | criteria provided, single submitter | clinical testing | Reported in a patient with idiopathic hypogonadotropic hypogonadism (IHH) and cryptorchidism; however, information about parental testing was not provided (Kim et al., 2008); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 21856375, 22035731, 22539353, 18834967, 31501239) |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000153029 | SCV002556157 | uncertain significance | not specified | 2022-06-24 | criteria provided, single submitter | clinical testing | Variant summary: CHD7 c.8639C>T (p.Pro2880Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 8e-06 in 249252 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.8639C>T has been reported in the literature in individuals affected with Hypogonadotropic Hypogonadism. These reports do not provide unequivocal conclusions about association of the variant with Hypogonadotropic Hypogonadism 5 With Or Without Anosmia. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance. |
Fulgent Genetics, |
RCV002478444 | SCV002780877 | uncertain significance | CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia | 2021-11-02 | criteria provided, single submitter | clinical testing | |
Gharavi Laboratory, |
RCV000723791 | SCV000920760 | uncertain significance | not provided | 2018-09-16 | no assertion criteria provided | research |