ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.5391GCC[1] (p.Pro1801del) (rs782769309)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821246 SCV000961999 uncertain significance Mental retardation 3, X-linked 2018-10-30 criteria provided, single submitter clinical testing This variant, c.5394_5396delGCC, results in the deletion of 1 amino acid(s) of the HCFC1 protein (p.Pro1801del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs782769309, ExAC 0.07%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with HCFC1-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093006 SCV001249775 uncertain significance not provided 2019-10-01 criteria provided, single submitter clinical testing

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