ClinVar Miner

Submissions for variant NM_003688.3(CASK):c.1186C>T (p.Pro396Ser) (rs137852820)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086366 SCV000831734 likely benign Mental retardation, CASK-related, X-linked 2019-12-31 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000733420 SCV000861488 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing
Mendelics RCV000990800 SCV001141839 likely benign 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 proline in codon 396 for serine, has been previously reported in medical literature to segregate with the phenotype of X-linked intellectual deficiency in one family (PMID: 19377476). However, functional studies demonstrate that it results in a structurally stable protein and interactions with liprin-α, Mint-1 and Veli are preserved (PMID: 24505460). In addition, it is observed at a higher than expected frequency in population databases, including 5 hemizygous individuals (gnomAD v2.1.1). Therefore, this variant was considered to be likely benign.
OMIM RCV000012292 SCV000032526 pathogenic FG syndrome 4 2009-05-01 no assertion criteria provided literature only

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