ClinVar Miner

Submissions for variant NM_001388492.1(HTT):c.3344C>G (p.Ala1115Gly)

gnomAD frequency: 0.00091  dbSNP: rs1065747
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514954 SCV000610682 likely benign not provided 2017-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514954 SCV002298994 uncertain significance not provided 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 1117 of the HTT protein (p.Ala1117Gly). This variant is present in population databases (rs1065747, gnomAD 0.2%), and has an allele count higher than expected for a pathogenic variant. This variant has not been reported in the literature in individuals affected with HTT-related conditions. ClinVar contains an entry for this variant (Variation ID: 445887). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
CeGaT Center for Human Genetics Tuebingen RCV000514954 SCV004700498 likely benign not provided 2025-03-01 criteria provided, single submitter clinical testing HTT: BP4

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