ClinVar Miner

Submissions for variant NM_001007228.2(SPOP):c.248A>G (p.Tyr83Cys)

dbSNP: rs2072168176
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV001030772 SCV001432980 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 RCV001030772 SCV001194280 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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