ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.899C>T (p.Thr300Met)

gnomAD frequency: 0.00002  dbSNP: rs201871910
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000693672 SCV000821550 uncertain significance Methylcobalamin deficiency type cblG 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 300 of the MTR protein (p.Thr300Met). This variant is present in population databases (rs201871910, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MTR-related conditions. ClinVar contains an entry for this variant (Variation ID: 572316). 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.
GeneDx RCV003163171 SCV003914961 uncertain significance not provided 2022-10-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004025161 SCV005008154 uncertain significance Inborn genetic diseases 2023-11-22 criteria provided, single submitter clinical testing The c.899C>T (p.T300M) alteration is located in exon 10 (coding exon 10) of the MTR gene. This alteration results from a C to T substitution at nucleotide position 899, causing the threonine (T) at amino acid position 300 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV003163171 SCV005186362 uncertain significance not provided criteria provided, single submitter not provided

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