ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.1643A>G (p.Asn548Ser)

gnomAD frequency: 0.00001  dbSNP: rs904496072
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847226 SCV002105918 uncertain significance Hereditary spastic paraplegia 2019-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002541663 SCV003537480 likely benign Inborn genetic diseases 2021-10-29 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Natera, Inc. RCV001277548 SCV001464508 uncertain significance Hereditary spastic paraplegia 49 2020-04-16 no assertion criteria provided clinical testing

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