ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.3548A>G (p.His1183Arg)

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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 RCV002298335 SCV002597989 uncertain significance Methylcobalamin deficiency type cblG 2023-03-22 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MTR protein function. ClinVar contains an entry for this variant (Variation ID: 1720617). This variant has not been reported in the literature in individuals affected with MTR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 1183 of the MTR protein (p.His1183Arg).
Ambry Genetics RCV003097981 SCV003635656 uncertain significance Inborn genetic diseases 2022-07-20 criteria provided, single submitter clinical testing The c.3548A>G (p.H1183R) alteration is located in exon 31 (coding exon 31) of the MTR gene. This alteration results from a A to G substitution at nucleotide position 3548, causing the histidine (H) at amino acid position 1183 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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