ClinVar Miner

Submissions for variant NM_024824.5(ZC3H14):c.2204+17_2204+41del (rs571303442)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000966173 SCV001113465 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000240871 SCV000299369 pathogenic Mental retardation, autosomal recessive 56 2016-09-20 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000240871 SCV001142443 benign Mental retardation, autosomal recessive 56 2020-01-06 no assertion criteria provided curation NG_050601.1(NM_024824.4):c.2204+17_2204+41del in ZC3H14 gene has an allele frequency of 0.028 in Ashkenazi Jewish subpopulation in the gnomAD database, including 22 homozygous occurrences. Benign computational verdict because benign prediction from GERP. Pak et al. reported three intellectual disability patients in a consanguineous family with the homozygous of this deletion. Haplotype of the single linkage interval with maximum LOD score of 2.5 in Family-2 (PMID: 21734151). Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BS2, BP4, PM3_Supporting, PP1_Strong.

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