ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.1222A>G (p.Asn408Asp)

dbSNP: rs2064747653
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen RCV001260986 SCV001438028 likely pathogenic MASA syndrome 2020-10-09 criteria provided, single submitter clinical testing The detected change has not yet been reported in the relevant databases (dbSNP151, gnomAD, ClinVar) or the literature. It affects a very conserved amino acid (Ensembl) and is classified bioinformatically as a disease-causing agent (SIFT, mutation button). Another amino acid exchange at the same position has already been described in the literature in connection with a hydrocephalus (Finckh et al., 2000).

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