ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.3257A>G (p.Asn1086Ser)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003066967 SCV003454423 uncertain significance Glycogen storage disease IXb 2022-08-12 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1086 of the PHKB protein (p.Asn1086Ser). This variant is present in population databases (rs144657506, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with PHKB-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV004070393 SCV005002779 uncertain significance Inborn genetic diseases 2022-10-25 criteria provided, single submitter clinical testing The c.3257A>G (p.N1086S) alteration is located in exon 31 (coding exon 31) of the PHKB gene. This alteration results from a A to G substitution at nucleotide position 3257, causing the asparagine (N) at amino acid position 1086 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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