ClinVar Miner

Submissions for variant NM_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys)

dbSNP: rs1555988422
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623859 SCV000741393 likely pathogenic Inborn genetic diseases 2016-09-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001327606 SCV001518690 uncertain significance not provided 2018-04-17 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). This variant has not been reported in the literature in individuals with HNRNPH2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 210 of the HNRNPH2 protein (p.Tyr210Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine.
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001265395 SCV004023403 likely pathogenic Intellectual disability, X-linked, syndromic, Bain type criteria provided, single submitter clinical testing
GeneDx RCV001327606 SCV005326697 pathogenic not provided 2023-12-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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: 33728377, 34794115, 37042074, 33874999)
GenomeConnect - Simons Searchlight RCV001265395 SCV001443520 likely pathogenic Intellectual disability, X-linked, syndromic, Bain type 2018-07-24 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-07-24 and interpreted as Likely Pathogenic. Variant was initially reported on 2016-05-05 by GTR ID of laboratory name 61756. The reporting laboratory might also submit to ClinVar.

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