ClinVar Miner

Submissions for variant NM_017780.4(CHD7):c.6694A>G (p.Ile2232Val)

gnomAD frequency: 0.00004  dbSNP: rs1329751221
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000825310 SCV000966605 uncertain significance not specified 2018-10-31 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ile2232Val va riant in CHD7 has been previously reported in 1 individual with isolated gonado tropin-releasing hormone deficiency (Balasubramanian 2014), and it has also been identified in 0.018% (4/21382) of Latino chromosomes by gnomAD (http://gnomad.b roadinstitute.org). The isoleucine at position 2232 is not conserved through spe cies with over 10 mammals carrying a valine (Val) at this position. However, an in vivo rescue study performed in zebrafish suggested that this variant may have a partial loss of function impact. However, this assay may not accurately repre sent biological function. In summary, while the clinical significance of this va riant is uncertain, the conservation data suggest that it is more likely to be b enign. BP4_Strong, PS3_Supporting.
Invitae RCV001056258 SCV001220692 benign CHARGE association 2023-11-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495188 SCV002778456 uncertain significance CHARGE association; Hypogonadotropic hypogonadism 5 with or without anosmia 2022-04-30 criteria provided, single submitter clinical testing

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