ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) (rs777042785)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169438 SCV000220855 likely pathogenic Tay-Sachs disease 2014-11-05 criteria provided, single submitter literature only
Integrated Genetics/Laboratory Corporation of America RCV000169438 SCV000917510 likely pathogenic Tay-Sachs disease 2017-10-23 criteria provided, single submitter clinical testing Variant summary: The HEXA c.1307_1308delTA (p.Ile436SerfsX7) variant results in a premature termination codon, predicted to cause a truncated or absent HEXA protein due to nonsense mediated decay, which are commonly known mechanisms for disease. One in silico tool predicts a damaging outcome for this variant. This variant was found in 3/277120 control chromosomes at a frequency of 0.0000108, which does not exceed the estimated maximal expected allele frequency of a pathogenic HEXA variant (0.0013975). This variant was reported in one homozygous Tay-Sachs disease patient (Zampieri_2012). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely pathogenic. Taken together, this variant is classified as likely pathogenic

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