ClinVar Miner

Submissions for variant NM_153741.2(DPM3):c.179G>T (p.Arg60Leu)

gnomAD frequency: 0.00002  dbSNP: rs773427971
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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 RCV000530340 SCV000649242 uncertain significance DPM3-congenital disorder of glycosylation 2024-05-06 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 60 of the DPM3 protein (p.Arg60Leu). This variant is present in population databases (rs773427971, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with DPM3-related conditions. ClinVar contains an entry for this variant (Variation ID: 471063). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV004024170 SCV004858804 uncertain significance not specified 2022-11-07 criteria provided, single submitter clinical testing The c.179G>T (p.R60L) alteration is located in exon 2 (coding exon 1) of the DPM3 gene. This alteration results from a G to T substitution at nucleotide position 179, causing the arginine (R) at amino acid position 60 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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