Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000146964 | SCV000194299 | likely pathogenic | Child syndrome | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000412977 | SCV000342339 | uncertain significance | not provided | 2017-08-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000412977 | SCV000491563 | likely pathogenic | not provided | 2020-08-11 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Invitae | RCV000412977 | SCV004408951 | pathogenic | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 243 of the NSDHL protein (p.Val243Met). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with CHILD syndrome and/or NSDHL-related conditions (PMID: 34787337; Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 159453). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic. |