ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr) (rs782010359)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493756 SCV000583278 uncertain significance not provided 2017-05-19 criteria provided, single submitter clinical testing The A477T variant has previously been reported in a male with severe intellectual disability, absent speech and febrile seizures in infancy (Jolly et al., 2015). This variant was inherited from an unaffected mother and the proband was reported to have normal methylmalonic levels in urine (Jolly et al., 2015). The A477T variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The A477T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000224972 SCV000281772 uncertain significance Mental retardation 3, X-linked 2016-03-17 criteria provided, single submitter research

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