ClinVar Miner

Submissions for variant NC_000007.13:g.(?_99703861)_(99704170_?)del

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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 RCV004583546 SCV005064653 pathogenic Hereditary spastic paraplegia 50 2023-10-10 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing exon(s) 13-14 of the AP4M1 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. This variant has not been reported in the literature in individuals affected with AP4M1-related conditions. This variant disrupts a region of the AP4M1 protein in which other variant(s) (p.Arg441*) have been determined to be pathogenic (PMID: 26077850, 32979048, 32989326; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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