ClinVar Miner

Submissions for variant NM_001375380.1(EBF3):c.1351A>G (p.Thr451Ala)

gnomAD frequency: 0.00001  dbSNP: rs1850109343
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001542363 SCV001761055 uncertain significance Hypotonia, ataxia, and delayed development syndrome 2020-07-03 criteria provided, single submitter clinical testing The inherited, heterozygous p.Thr442Ala missense variant identified in the EBF3 gene has not been reported in affected individuals in the literature. The variant has 0.000006977 allele frequency in the gnomAD(v3) database (1 out of 143,332 heterozygous alleles) indicating it is an extremely rare allele in the general population. The variant affects an evolutionarily conserved residue. In silico prediction tools provide conflicting interpretations about potential pathogenicity of this variant. Based on the available evidence, the inherited p.Thr442Ala missense variant identified in EBF3 gene is assessed as a variant of uncertain significance.

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