ClinVar Miner

Submissions for variant NM_014844.5(TECPR2):c.1458G>A (p.Ser486=)

gnomAD frequency: 0.00003  dbSNP: rs775531821
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000443664 SCV000528044 likely benign not specified 2016-05-24 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000863377 SCV001004028 likely benign Hereditary spastic paraplegia 49 2024-02-14 criteria provided, single submitter clinical testing

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