ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.676T>C (p.Phe226Leu)

gnomAD frequency: 0.00008  dbSNP: rs1294102203
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634420 SCV000755725 benign CHARGE association 2023-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002360535 SCV002662410 uncertain significance Inborn genetic diseases 2019-08-14 criteria provided, single submitter clinical testing The p.F226L variant (also known as c.676T>C), located in coding exon 1 of the CHD7 gene, results from a T to C substitution at nucleotide position 676. The phenylalanine at codon 226 is replaced by leucine, 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 RCV002492963 SCV002791602 uncertain significance CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-01-06 criteria provided, single submitter clinical testing

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