ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn)

dbSNP: rs1555475468
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672353 SCV000797451 uncertain significance Tay-Sachs disease 2018-01-25 criteria provided, single submitter clinical testing
Invitae RCV000672353 SCV001226300 uncertain significance Tay-Sachs disease 2022-02-04 criteria provided, single submitter clinical testing Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 556355). This variant has not been reported in the literature in individuals affected with HEXA-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.218_219insAAA, is a complex sequence change that results in the deletion of 1 and insertion of 2 amino acid(s) in the HEXA protein (p.Phe73delinsLeuAsn). 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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