ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) (rs370266293)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670578 SCV000795447 uncertain significance Tay-Sachs disease 2017-11-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002010 SCV001159826 uncertain significance not specified 2018-08-09 criteria provided, single submitter clinical testing The HEXA c.1178G>A; p.Arg393Gln variant (rs370266293), to our knowledge, is not reported in the medical literature or gene specific databases; however, another variant at this codon (c.1178G>C; p.R393P) has been reported in the homozygous state in an individual with Tay-Sachs disease (Mistri 2012). This variant is found in the South Asian population with an overall allele frequency of 0.07% (21/30780 alleles) in the Genome Aggregation Database. The arginine at codon 393 is moderately conserved, and computational analyses (SIFT: damaging, PolyPhen-2: benign) predict conflicting effects of the p.Arg393Gln variant on protein structure/function. Due to limited information, the clinical significance of the p.Arg393Gln variant is uncertain at this time.

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