ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser)

gnomAD frequency: 0.00017  dbSNP: rs370972259
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000341506 SCV000340827 uncertain significance not provided 2016-04-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001162517 SCV001324472 likely benign Hypogonadotropic hypogonadism 5 with or without anosmia 2017-04-27 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). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Invitae RCV001305488 SCV001494824 benign CHARGE association 2024-01-08 criteria provided, single submitter clinical testing
GeneDx RCV000341506 SCV001766280 likely benign not provided 2020-11-24 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25996639)
Ambry Genetics RCV002365319 SCV002658671 uncertain significance Inborn genetic diseases 2018-02-08 criteria provided, single submitter clinical testing The p.P2083S variant (also known as c.6247C>T), located in coding exon 30 of the CHD7 gene, results from a C to T substitution at nucleotide position 6247. The proline at codon 2083 is replaced by serine, an amino acid with similar properties. This amino acid position is well 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.

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