ClinVar Miner

Submissions for variant NM_014363.6(SACS):c.2551G>T (p.Val851Phe)

gnomAD frequency: 0.00006  dbSNP: rs756890722
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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 RCV000545527 SCV000629461 likely benign Spastic paraplegia 2023-04-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001848921 SCV002105015 uncertain significance Hereditary spastic paraplegia 2018-05-01 criteria provided, single submitter clinical testing
Athena Diagnostics RCV005000138 SCV005622116 uncertain significance not provided 2024-09-27 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Polyphen and MutationTaster yielded discordant predictions regarding whether this amino acid change is damaging to the protein.
Natera, Inc. RCV001834757 SCV002086717 uncertain significance Charlevoix-Saguenay spastic ataxia 2020-10-09 no assertion criteria provided clinical testing

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