ClinVar Miner

Submissions for variant NM_001007228.2(SPOP):c.73A>G (p.Thr25Ala)

dbSNP: rs2072244773
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Network, NIH RCV001255968 SCV001432745 uncertain significance SPOP-related condition 2020-02-24 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV001030770 SCV001432979 likely pathogenic Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies 2020-09-10 criteria provided, single submitter curation This variant is interpreted as likely pathogenic for Nabais Sa-de Vries syndrome 2, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); De novo (paternity and maternity confirmed) (PS2); Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease (PP2); Well-established functional studies show a deleterious effect (PS3 downgraded to supporting).
OMIM RCV001030770 SCV001194278 pathogenic Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies 2020-05-01 no assertion criteria provided literature only

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