ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.325G>A (p.Gly109Ser)

gnomAD frequency: 0.00001  dbSNP: rs746836137
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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 RCV001867083 SCV002127062 uncertain significance Methylcobalamin deficiency type cblG 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 109 of the MTR protein (p.Gly109Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. This variant is present in population databases (rs746836137, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with MTR-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004946772 SCV005444271 uncertain significance Inborn genetic diseases 2024-09-04 criteria provided, single submitter clinical testing The c.325G>A (p.G109S) alteration is located in exon 3 (coding exon 3) of the MTR gene. This alteration results from a G to A substitution at nucleotide position 325, causing the glycine (G) at amino acid position 109 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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