ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.1039C>T (p.Pro347Ser)

gnomAD frequency: 0.00014  dbSNP: rs140956566
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245582 SCV001418879 uncertain significance Methylcobalamin deficiency type cblG 2022-10-05 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 347 of the MTR protein (p.Pro347Ser). This variant is present in population databases (rs140956566, 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: 970079). 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 not expected to disrupt MTR 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 RCV002568626 SCV003526309 uncertain significance Inborn genetic diseases 2022-04-21 criteria provided, single submitter clinical testing The c.1039C>T (p.P347S) alteration is located in exon 12 (coding exon 12) of the MTR gene. This alteration results from a C to T substitution at nucleotide position 1039, causing the proline (P) at amino acid position 347 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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