ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.32T>C (p.Leu11Pro) (rs141120074)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002232 SCV001160107 uncertain significance not specified 2018-11-15 criteria provided, single submitter clinical testing The HEXA c.32T>C; p.Leu11Pro variant (rs141120074), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found on only three chromosomes in the Genome Aggregation Database, indicating it is not a common polymorphism. The leucine at codon 11 is highly conserved, it occurs within a hydrophobic signal peptide sequence (Myerowitz 1997), and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. However, due to limited information, the clinical significance of the p.Leu11Pro variant is uncertain at this time. References: Myerowitz R. Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene. Hum Mutat. 1997;9(3):195-208.

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