ClinVar Miner

Submissions for variant NM_003119.4(SPG7):c.466_468dup (p.Asn156_Ala157insAsn)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003618793 SCV004514619 uncertain significance Hereditary spastic paraplegia 7 2023-10-03 criteria provided, single submitter clinical testing This variant, c.466_468dup, results in the insertion of 1 amino acid(s) of the SPG7 protein (p.Asn156dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs760075114, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SPG7-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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