ClinVar Miner

Submissions for variant NC_000004.11:g.3076606GCA[27_35]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
American College of Medical Genetics and Genomics (ACMG) RCV001003422 SCV001161719 other Huntington disease 2014-07-31 practice guideline curation These alleles have yet to be convincingly associated with an HD phenotype, but they can be meiotically unstable in sperm, and pathologic expansion of paternally derived alleles in this size range has been described. There have been no reports of maternally transmitted alleles in this range producing offspring with affected alleles. The likelihood that transmission of an allele in this range will expand into an HD allele is dependent on several factors, including the sex of the transmitting individual, the size of the allele, the molecular configuration of the region surrounding the CAG repeat, and its haplotype.

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