ClinVar Miner

Submissions for variant NM_015915.5(ATL1):c.1542G>A (p.Leu514=)

gnomAD frequency: 0.00003  dbSNP: rs765171869
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001433108 SCV001635892 likely benign Hereditary spastic paraplegia 3A 2023-05-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930921 SCV004750233 likely benign ATL1-related disorder 2019-06-19 no assertion criteria provided 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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