ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.3952G>A (p.Val1318Ile)

gnomAD frequency: 0.00004  dbSNP: rs199626531
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000281915 SCV000329413 likely benign not provided 2020-05-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000354473 SCV000416710 uncertain significance Intellectual Disability, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000471099 SCV000545109 benign Intellectual disability, autosomal dominant 1 2023-04-24 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000471099 SCV000898816 uncertain significance Intellectual disability, autosomal dominant 1 2021-03-30 criteria provided, single submitter clinical testing MBD5 NM_018328.4 exon 12 p.Val1085Ile (c.3253G>A): This variant has not been reported in the literature but is present in 12/126680 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/variant/2-149247153-G-A). This variant is present in ClinVar (Variation ID:279846). This variant amino acid isoleucine (Ile) is present in 3 mammals but is well conserved among evolutionarily distant species. Additional computational prediction tools are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
CeGaT Center for Human Genetics Tuebingen RCV000281915 SCV001500230 uncertain significance not provided 2020-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021058 SCV004902883 likely benign Inborn genetic diseases 2023-12-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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