ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3464G>A (p.Arg1155His)

gnomAD frequency: 0.00002  dbSNP: rs762669262
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001053907 SCV001218192 likely benign CHARGE association 2023-11-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002460127 SCV002618417 uncertain significance Inborn genetic diseases 2018-11-23 criteria provided, single submitter clinical testing The p.R1155H variant (also known as c.3464G>A), located in coding exon 13 of the CHD7 gene, results from a G to A substitution at nucleotide position 3464. The arginine at codon 1155 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV002481982 SCV002778222 uncertain significance CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-03-02 criteria provided, single submitter clinical testing

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