ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup)

dbSNP: rs773191073
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669192 SCV000793920 uncertain significance Holocarboxylase synthetase deficiency 2017-09-12 criteria provided, single submitter clinical testing
Invitae RCV000669192 SCV003521885 uncertain significance Holocarboxylase synthetase deficiency 2021-09-02 criteria provided, single submitter clinical testing This variant, c.2060_2062dup, results in the insertion of 1 amino acid(s) to the HLCS protein (p.Val687dup), 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 not been reported in the literature in individuals affected with HLCS-related conditions. ClinVar contains an entry for this variant (Variation ID: 553686). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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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