ClinVar Miner

Submissions for variant NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) (rs200895671)

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Total submissions: 4
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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 2020-08-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 189 of the MMACHC protein (p.Arg189Ser). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs200895671, ExAC 0.01%). This variant has been observed in combination with another MMACHC variant in several individuals affected with methylmalonic aciduria and homocystinuria, cblC type (PMID: 18164228, 29294253, 16311595, 18245139, 24599607, 19760748). ClinVar contains an entry for this variant (Variation ID: 558690). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001273232 SCV001456024 pathogenic Methylmalonic acidemia with homocystinuria cblC 2020-09-16 no assertion criteria provided clinical testing

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