ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)

dbSNP: rs121918240
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000001487 SCV000789773 likely pathogenic Cobalamin C disease 2017-02-17 criteria provided, single submitter clinical testing
Baylor Genetics RCV000001487 SCV001162900 pathogenic Cobalamin C disease criteria provided, single submitter clinical testing
Invitae RCV000001487 SCV002247290 pathogenic Cobalamin C disease 2024-01-30 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 116 of the MMACHC protein (p.Leu116Pro). This variant is present in population databases (rs121918240, gnomAD 0.04%). This missense change has been observed in individual(s) with homocystinuria, cblC type (PMID: 14568819, 16311595, 18245139, 20631720, 20924684; Invitae). ClinVar contains an entry for this variant (Variation ID: 1422). 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 RCV000001487 SCV002811453 likely pathogenic Cobalamin C disease 2021-07-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000001487 SCV004178158 likely pathogenic Cobalamin C disease 2023-04-11 criteria provided, single submitter clinical testing
OMIM RCV000001487 SCV000021642 pathogenic Cobalamin C disease 2006-01-01 no assertion criteria provided literature only
Neurology Department, Peking University First Hospital RCV000001487 SCV001423146 pathogenic Cobalamin C disease 2020-04-23 no assertion criteria provided research
GeneReviews RCV002512644 SCV003354476 not provided Disorders of Intracellular Cobalamin Metabolism no assertion provided literature only

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