ClinVar Miner

Submissions for variant NM_001399.5(EDA):c.1001G>A (p.Arg334His) (rs142948132)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864637 SCV001005464 benign Hypohidrotic X-linked ectodermal dysplasia 2019-12-31 criteria provided, single submitter clinical testing
OMIM RCV000239557 SCV000297844 pathogenic Tooth agenesis, selective, X-linked, 1 2016-08-17 no assertion criteria provided literature only
Reproductive Health Research and Development,BGI Genomics RCV000239557 SCV001142502 benign Tooth agenesis, selective, X-linked, 1 2020-01-06 no assertion criteria provided curation NM_001399.4:c.1001G>A in EDA gene has an allele frequency of 0.011 in East Asian subpopulation in the gnomAD database, including 2 homozygous occurrences, and 54 hemizygotes. This variant was reported in a male patient with Non-syndromic Oligodontia, inherited from his mother, which indicated a X-linked recessive inheritance (PMID: 19278982). Taken together, we interprete this variant as Benign/Likely benign variant. ACMG/AMP criteria applied: BS1, BS2.

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