ClinVar Miner

Submissions for variant NM_001278116.2(L1CAM):c.113C>T (p.Thr38Met)

gnomAD frequency: 0.00027  dbSNP: rs201151358
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524706 SCV000629388 benign Spastic paraplegia 2024-01-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314948 SCV000848965 benign Inborn genetic diseases 2017-02-06 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GeneDx RCV001653889 SCV001869658 benign not provided 2018-09-10 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26891472, 19846429)
Athena Diagnostics RCV001662537 SCV001879554 benign not specified 2021-04-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497076 SCV002805404 likely benign MASA syndrome; X-linked complicated corpus callosum dysgenesis; X-linked hydrocephalus syndrome 2021-07-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960269 SCV004768684 likely benign L1CAM-related disorder 2023-12-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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