ClinVar Miner

Submissions for variant NM_020533.3(MCOLN1):c.1013G>A (p.Arg338Gln)

gnomAD frequency: 0.00001  dbSNP: rs368837514
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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 RCV000550574 SCV000630738 uncertain significance Mucolipidosis type IV 2022-03-18 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 338 of the MCOLN1 protein (p.Arg338Gln). This variant is present in population databases (rs368837514, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MCOLN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 459177). 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 glutamine 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 RCV002377035 SCV002625017 uncertain significance Inborn genetic diseases 2023-10-10 criteria provided, single submitter clinical testing The c.1013G>A (p.R338Q) alteration is located in exon 9 (coding exon 9) of the MCOLN1 gene. This alteration results from a G to A substitution at nucleotide position 1013, causing the arginine (R) at amino acid position 338 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000550574 SCV001461395 uncertain significance Mucolipidosis type IV 2018-05-01 no assertion criteria provided clinical testing

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