ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe)

dbSNP: rs768184220
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000258096 SCV000328330 likely pathogenic CHARGE syndrome 2016-09-05 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334946 SCV001527960 likely pathogenic Hypogonadotropic hypogonadism 5 with or without anosmia 2018-03-22 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002518788 SCV003741050 uncertain significance Inborn genetic diseases 2021-12-03 criteria provided, single submitter clinical testing The c.3241A>T (p.I1081F) alteration is located in exon 13 (coding exon 12) of the CHD7 gene. This alteration results from a A to T substitution at nucleotide position 3241, causing the isoleucine (I) at amino acid position 1081 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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