ClinVar Miner

Submissions for variant NM_015922.3(NSDHL):c.727G>A (p.Val243Met)

dbSNP: rs587784224
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000146964 SCV000194299 likely pathogenic Child syndrome 2013-02-08 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000412977 SCV000342339 uncertain significance not provided 2017-08-31 criteria provided, single submitter clinical testing
GeneDx 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.

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