ClinVar Miner

Submissions for variant NM_144599.5(NIPA1):c.798C>T (p.Val266=)

gnomAD frequency: 0.00001  dbSNP: rs1008907564
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000600132 SCV000726997 likely benign not specified 2018-01-31 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.
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848997 SCV002105431 uncertain significance Hereditary spastic paraplegia 2016-12-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002528617 SCV003248651 likely benign Hereditary spastic paraplegia 6 2022-03-29 criteria provided, single submitter clinical testing

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