ClinVar Miner

Submissions for variant NM_000293.3(PHKB):c.2861A>G (p.Asn954Ser)

gnomAD frequency: 0.00001  dbSNP: rs147624679
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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 RCV002993494 SCV003292641 uncertain significance Glycogen storage disease IXb 2022-02-04 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 954 of the PHKB protein (p.Asn954Ser). This variant is present in population databases (rs147624679, gnomAD 0.05%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004065171 SCV005002775 uncertain significance Inborn genetic diseases 2023-10-13 criteria provided, single submitter clinical testing The c.2861A>G (p.N954S) alteration is located in exon 28 (coding exon 28) of the PHKB gene. This alteration results from a A to G substitution at nucleotide position 2861, causing the asparagine (N) at amino acid position 954 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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