ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.912_914CTT[1] (p.Phe305del) (rs121907960)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169148 SCV000220373 likely pathogenic Tay-Sachs disease 2014-06-05 criteria provided, single submitter literature only
Ambry Genetics RCV000622988 SCV000742705 likely pathogenic Inborn genetic diseases 2017-07-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
Invitae RCV000169148 SCV000933426 pathogenic Tay-Sachs disease 2018-10-23 criteria provided, single submitter clinical testing This variant, c.915_917delCTT, results in the deletion of 1 amino acid(s) of the HEXA protein (p.Phe305del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs778155650, ExAC 0.02%). This variant has been reported as in combination with another HEXA variant in several individuals affected with Tay-Sachs disease (PMID: 16088929, 1837283) as well as affected individuals in whom the second allele was not identified (PMID: 1837283, 1825014). This variant is common in the Moroccan population (PMID: 1322637, 1825014)  ClinVar contains an entry for this variant (Variation ID: 188812). This variant is also know as p.F304del in the literature. Experimental studies have shown that this deletion causes reduced enzyme activity when expressed in COS 1 cells (PMID: 1825014). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000169148 SCV000024275 pathogenic Tay-Sachs disease 1992-08-01 no assertion criteria provided literature only

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