ClinVar Miner

Submissions for variant NM_018328.4(MBD5):c.60A>G (p.Gln20=) (rs1057522537)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000435201 SCV000528284 likely benign not specified 2016-05-31 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000716645 SCV000847487 uncertain significance History of neurodevelopmental disorder 2016-08-24 criteria provided, single submitter clinical testing The c.60A>G variant (also known as p.Q20Q), located in coding exon 1, results from an A to G substitution at nucleotide position 60 of the MBD5 gene. This nucleotide substitution does not change the amino acid at codon 20. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6503 samples (13006 alleles) with coverage at this position. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to create a new alternate splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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