Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Department, |
RCV003986040 | SCV004801879 | likely pathogenic | MASA syndrome; X-linked hydrocephalus syndrome | criteria provided, single submitter | clinical testing | A previously undescribed nucleotide variant creates a premature translation stop signal p.Trp1078Ter in the L1CAM gene. The variant was observed in hemizygous state in an individual affected with ventriculomegaly and corpus callosum anomaly (male sib suffered hydrocephaly). Loss-of-function variants are reported in patients with Hydrocephalus, congenital, 307000, MASA syndrome, 303350. The variant is not present in population database (gnomAD no frequency). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as likely pathogenic. |