ClinVar Miner

Submissions for variant NM_015214.3(DDHD2):c.864A>C (p.Ile288=)

gnomAD frequency: 0.00036  dbSNP: rs148904419
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000550276 SCV000652453 likely benign Hereditary spastic paraplegia 54 2023-12-14 criteria provided, single submitter clinical testing
GeneDx RCV000615371 SCV000719689 likely benign not specified 2017-05-25 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 RCV001848967 SCV002104622 likely benign Hereditary spastic paraplegia 2019-08-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003437273 SCV004164631 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing DDHD2: BP4, BP7

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