ClinVar Miner

Submissions for variant NM_032237.5(POMK):c.620A>G (p.Asp207Gly)

gnomAD frequency: 0.00001  dbSNP: rs770018377
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001045903 SCV001209778 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Limb-girdle muscular dystrophy due to POMK deficiency 2022-07-19 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 207 of the POMK protein (p.Asp207Gly). This variant is present in population databases (rs770018377, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with POMK-related conditions. ClinVar contains an entry for this variant (Variation ID: 843307). 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: "Probably Damaging"; 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.
Ambry Genetics RCV002553133 SCV003582793 uncertain significance Inborn genetic diseases 2021-11-05 criteria provided, single submitter clinical testing The c.620A>G (p.D207G) alteration is located in exon 5 (coding exon 2) of the POMK gene. This alteration results from a A to G substitution at nucleotide position 620, causing the aspartic acid (D) at amino acid position 207 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003132167 SCV003811802 uncertain significance not provided 2021-09-23 criteria provided, single submitter clinical testing

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