ClinVar Miner

Submissions for variant NM_025137.4(SPG11):c.6447C>A (p.His2149Gln)

gnomAD frequency: 0.00004  dbSNP: rs373897153
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002029757 SCV002108134 likely benign Hereditary spastic paraplegia 11 2024-02-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002545298 SCV003634385 uncertain significance Inborn genetic diseases 2022-06-17 criteria provided, single submitter clinical testing The c.6447C>A (p.H2149Q) alteration is located in exon 34 (coding exon 34) of the SPG11 gene. This alteration results from a C to A substitution at nucleotide position 6447, causing the histidine (H) at amino acid position 2149 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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