ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV001291632 SCV001480206 uncertain significance Mental retardation 3, X-linked 2019-08-28 criteria provided, single submitter clinical testing The hemizygous c.3257G>A (p.Gly1086Asp) variant identified in the HCFC1 gene substitutes a completely conserved Glycine for Aspartic Acid at amino acid 1086/2036 (coding exon 17/26). This variant is absent from gnomAD and ExAC suggesting it is not a common benign variant in the populations represented in these databases. In silico algorithms predict this variant to be Deleterious (Provean; score: -3.08) and Damaging (SIFT; score: 0.00) to the function of the canonical transcript.This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. The Gly1086 residue is within the basic HCF-1 Pro domain of HCFC1, and missense variants within this domain and throughout the protein have been reported in affected individuals [PMID: 25740848]. Given the lack of compelling information regarding the pathogenicity of the c.3257G>A (p.Gly1086Asp) variant it is reported here as a Variant of Uncertain Significance.

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