ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.-7_1del (p.Met1fs)

dbSNP: rs759154405
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670129 SCV000794946 uncertain significance Tay-Sachs disease 2017-10-23 criteria provided, single submitter clinical testing
Invitae RCV000670129 SCV002933712 uncertain significance Tay-Sachs disease 2021-12-02 criteria provided, single submitter clinical testing This variant occurs in a non-coding region of the HEXA gene. It does not change the encoded amino acid sequence of the HEXA protein. This variant is present in population databases (rs759154405, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with HEXA-related conditions. ClinVar contains an entry for this variant (Variation ID: 554486). 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.

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