ClinVar Miner

Submissions for variant NM_015166.4(MLC1):c.1008G>T (p.Gln336His)

gnomAD frequency: 0.00020  dbSNP: rs139336504
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV000660578 SCV000782690 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1 2017-05-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV000660578 SCV001529594 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1 2018-07-31 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV000660578 SCV002778924 uncertain significance Megalencephalic leukoencephalopathy with subcortical cysts 1 2021-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002532018 SCV003285515 uncertain significance not provided 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 336 of the MLC1 protein (p.Gln336His). This variant is present in population databases (rs139336504, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MLC1-related conditions. ClinVar contains an entry for this variant (Variation ID: 547978). 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: "Tolerated"; 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 RCV004026057 SCV004981524 uncertain significance Inborn genetic diseases 2021-10-29 criteria provided, single submitter clinical testing The c.1008G>T (p.Q336H) alteration is located in exon 11 (coding exon 10) of the MLC1 gene. This alteration results from a G to T substitution at nucleotide position 1008, causing the glutamine (Q) at amino acid position 336 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV002532018 SCV005194526 uncertain significance not provided criteria provided, single submitter not provided

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