ClinVar Miner

Submissions for variant NM_031229.4(RBCK1):c.1040C>G (p.Pro347Arg)

gnomAD frequency: 0.00011  dbSNP: rs370963132
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532107 SCV000655308 uncertain significance Polyglucosan body myopathy type 1 2022-06-22 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 347 of the RBCK1 protein (p.Pro347Arg). This variant is present in population databases (rs370963132, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RBCK1-related conditions. ClinVar contains an entry for this variant (Variation ID: 475181). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). 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 RCV003343921 SCV004061570 uncertain significance Inborn genetic diseases 2023-07-05 criteria provided, single submitter clinical testing The c.1040C>G (p.P347R) alteration is located in exon 9 (coding exon 9) of the RBCK1 gene. This alteration results from a C to G substitution at nucleotide position 1040, causing the proline (P) at amino acid position 347 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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