ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3226A>G (p.Lys1076Glu)

dbSNP: rs1804153455
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001172187 SCV001335168 likely pathogenic not provided 2020-02-01 criteria provided, single submitter clinical testing
Invitae RCV001379714 SCV001577563 likely pathogenic CHARGE association 2020-04-08 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with clinical features of Kallmann syndrome (Invitae). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamic acid at codon 1076 of the CHD7 protein (p.Lys1076Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid.

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