ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.7082G>A (p.Arg2361Lys)

gnomAD frequency: 0.00005  dbSNP: rs777753993
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000340499 SCV000474494 uncertain significance Hypogonadotropic hypogonadism 5 with or without anosmia 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Invitae RCV000405181 SCV000755715 likely benign CHARGE association 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002365430 SCV002662549 uncertain significance Inborn genetic diseases 2019-01-14 criteria provided, single submitter clinical testing The p.R2361K variant (also known as c.7082G>A), located in coding exon 32 of the CHD7 gene, results from a G to A substitution at nucleotide position 7082. The arginine at codon 2361 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003430953 SCV004155872 uncertain significance not provided 2023-01-01 criteria provided, single submitter clinical testing

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