ClinVar Miner

Submissions for variant NM_018946.4(NANS):c.1A>G (p.Met1Val)

gnomAD frequency: 0.00001  dbSNP: rs369033671
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000999186 SCV001155683 likely pathogenic not provided 2019-05-01 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV002226750 SCV002505658 likely pathogenic Spondyloepimetaphyseal dysplasia, Genevieve type 2022-04-25 no assertion criteria provided clinical testing The homozygous start-loss variant c.1A>G (p.1M?) has an allele frequency-0.0018% in gnomAD (aggregated) database and 0.0033% in 1000g databases. In-silico bioinformatic software predicts this variant by mutation taster as Disease causing. Phenotype observed were micromelia, bilateral hydrocephalus, cerebellar hypoplasia, hypoplastic nasal bone and hydrops. Spondyloepimetaphyseal dysplasia, Camera-Genevieve type is an autosomal recessive disorder. This is also known as NANS-CDG as sialic acid plays a vital role in multiple cellular functions. We classify this variant as likely pathogenic based on the phenotypes.

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