ClinVar Miner

Submissions for variant NM_005334.3(HCFC1):c.3563C>T (p.Ser1188Leu) (rs782473277)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000821405 SCV000962160 uncertain significance Mental retardation 3, X-linked 2019-06-26 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 1188 of the HCFC1 protein (p.Ser1188Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. While this variant is present in population databases (rs782473277), the frequency information is 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 with HCFC1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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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