ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp)

gnomAD frequency: 0.01431  dbSNP: rs35749032
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000197208 SCV000252308 benign not specified 2014-08-01 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 RCV001085449 SCV000287873 benign Hereditary spastic paraplegia 7 2025-02-02 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000197208 SCV000309387 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001085449 SCV000399767 likely benign Hereditary spastic paraplegia 7 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics RCV000713484 SCV000844101 benign not provided 2017-12-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001085449 SCV001473060 benign Hereditary spastic paraplegia 7 2023-09-21 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001847885 SCV002105874 likely benign Hereditary spastic paraplegia 2021-09-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000713484 SCV005219723 likely benign not provided criteria provided, single submitter not provided

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