ClinVar Miner

Submissions for variant NM_020312.4(COQ9):c.184C>T (p.His62Tyr)

dbSNP: rs757251412
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195944 SCV000251278 likely benign not specified 2013-01-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001857727 SCV002298133 uncertain significance not provided 2021-12-03 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 214241). This missense change has been observed in individual(s) with COQ9-related conditions (PMID: 27629047). This variant is present in population databases (rs757251412, gnomAD 0.04%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 62 of the COQ9 protein (p.His62Tyr).
Ambry Genetics RCV002517202 SCV003728066 uncertain significance Inborn genetic diseases 2021-11-24 criteria provided, single submitter clinical testing The c.184C>T (p.H62Y) alteration is located in exon 2 (coding exon 2) of the COQ9 gene. This alteration results from a C to T substitution at nucleotide position 184, causing the histidine (H) at amino acid position 62 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City RCV000985172 SCV001133179 likely pathogenic Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 2019-09-26 no assertion criteria provided clinical testing

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