ClinVar Miner

Submissions for variant NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu)

gnomAD frequency: 0.00015  dbSNP: rs145946172
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001142850 SCV001303339 uncertain significance Parkinson disease 13, autosomal dominant, susceptibility to 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV002497558 SCV002813319 uncertain significance Parkinson disease 13, autosomal dominant, susceptibility to; 3-methylglutaconic aciduria type 8 2021-10-08 criteria provided, single submitter clinical testing
Invitae RCV002557043 SCV003524697 uncertain significance not provided 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 26 of the HTRA2 protein (p.Gly26Glu). This variant is present in population databases (rs145946172, gnomAD 0.06%). This missense change has been observed in individual(s) with Parkinson disease (PMID: 21338583). ClinVar contains an entry for this variant (Variation ID: 898769). 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. 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.

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