ClinVar Miner

Submissions for variant NM_024596.5(MCPH1):c.2257G>A (p.Gly753Arg)

dbSNP: rs587783737
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV002485988 SCV002787825 uncertain significance Microcephaly 1, primary, autosomal recessive 2021-12-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568719 SCV003507084 uncertain significance not provided 2022-03-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 753 of the MCPH1 protein (p.Gly753Arg). This variant is present in population databases (rs587783737, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MCPH1-related conditions. ClinVar contains an entry for this variant (Variation ID: 975288). 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: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001251831 SCV001427573 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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