ClinVar Miner

Submissions for variant NM_000521.4(HEXB):c.1614-16_1615dup

gnomAD frequency: 0.00002  dbSNP: rs1554037309
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596163 SCV000700956 uncertain significance not provided 2015-10-06 criteria provided, single submitter clinical testing
Counsyl RCV000674261 SCV000799568 uncertain significance Sandhoff disease 2018-04-25 criteria provided, single submitter clinical testing
Invitae RCV000674261 SCV003784541 uncertain significance Sandhoff disease 2021-10-01 criteria provided, single submitter clinical testing This variant, c.1614-16_1615dup, results in the insertion of 6 amino acid(s) to the HEXB protein (p.Glu538_Arg539insLeuHisValIleTyrArg), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been observed in individual(s) with HEXB-related conditions (PMID: 2170400). This variant is also known as Hexosaminidase Paris. ClinVar contains an entry for this variant (Variation ID: 496985). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects HEXB function (PMID: 2170400). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
OMIM RCV002286414 SCV000024246 pathogenic Hexosaminidase B (Paris) 1990-10-15 no assertion criteria provided literature only

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