ClinVar Miner

Submissions for variant NM_003688.3(CASK):c.2414G>A (p.Ser805Asn) (rs1602220170)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000990796 SCV001141835 uncertain significance Mental retardation and microcephaly with pontine and cerebellar hypoplasia 2020-05-06 criteria provided, single submitter clinical testing This variant, that leads to the substitution of serine in codon 805 for asparagine, was identified in hemizygosity in a male proband with a phenotype highly suggestive of a CASK-related disorder. The variant has been shown to be inherited from his asymptomatic mother, however maternal grandparents were not available for testing. Serine residue in codon 805 is highly conserved across species. This variant is not identified at any significant frequency in population databases (gnomAD v2.1.1) and has never been published in medical literature, nor functional studies have been performed. Although it is likely to be related to the phenotype, it is not possible to exclude the possibility that it is a rare neutral variant. Therefore, it was considered to be of unknown significance.

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