ClinVar Miner

Submissions for variant NM_031448.6(C19orf12):c.279del (p.Ala94fs)

dbSNP: rs2145622361
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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 RCV002237731 SCV002510962 uncertain significance Hereditary spastic paraplegia 43 2021-02-08 criteria provided, single submitter clinical testing 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. This variant has been observed in individual(s) with clinical features of autosomal dominant neurodegeneration with brain iron accumulation (Invitae). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala105Profs*14) in the C19orf12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 48 amino acid(s) of the C19orf12 protein.

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