ClinVar Miner

Submissions for variant NM_015915.5(ATL1):c.1319A>C (p.Asn440Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HUSP Clinical Genetics Laboratory, Hospital Universitario San Pedro De Logroño (HUSP) RCV003312915 SCV005046459 pathogenic Hereditary spastic paraplegia 3A criteria provided, single submitter clinical testing The variant was detected in a 46-years-old male, son of a woman with Spastic Paraplegia 3. He presents lower limb spasticity and hyperreflexia. Both of them presented the variant c.1319A>C in the exon 12 of ATL1 (NM_015915.5). It results in an amino acid substitution in the predicted protein (p.Asn440Thr). This variant is not detected in general population and has been published in July 2023 as uncertain significance in ClinVar. In silico tools predict that this variant affects the function of the protein and label it as pathogenic. Pathogenic variants in ATL1 have been associated with Spastic Paraplegia 3 (OMIM: 182600), with autosomal dominant inheritance.
Inherited Neuropathy Consortium Ii, University Of Miami RCV003312915 SCV004011941 uncertain significance Hereditary spastic paraplegia 3A 2016-01-06 no assertion criteria provided literature only

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