ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)

dbSNP: rs200895671
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674997 SCV000800420 likely pathogenic Cobalamin C disease 2018-06-07 criteria provided, single submitter clinical testing
Mendelics RCV000674997 SCV001135278 pathogenic Cobalamin C disease 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000674997 SCV001206381 pathogenic Cobalamin C disease 2024-01-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 189 of the MMACHC protein (p.Arg189Ser). This variant is present in population databases (rs200895671, gnomAD 0.006%). This missense change has been observed in individual(s) with methylmalonic aciduria and homocystinuria, cblC type (PMID: 16311595, 18164228, 18245139, 19760748, 24599607, 29294253). ClinVar contains an entry for this variant (Variation ID: 558690). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MMACHC protein function. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000674997 SCV002800376 pathogenic Cobalamin C disease 2021-07-16 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000674997 SCV003806928 pathogenic Cobalamin C disease 2022-11-11 criteria provided, single submitter clinical testing ACMG classification criteria: PS3 supporting, PM2 moderated, PM3 very strong, PP3 supporting
Genome-Nilou Lab RCV000674997 SCV004178198 likely pathogenic Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing
Baylor Genetics RCV000674997 SCV004193189 pathogenic Cobalamin C disease 2023-06-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273232 SCV001456024 pathogenic Methylmalonic acidemia with homocystinuria cblC 2020-09-16 no assertion criteria provided clinical testing

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