ClinVar Miner

Submissions for variant NM_001378120.1(MBD5):c.1249A>G (p.Met417Val)

dbSNP: rs1250224277
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000801964 SCV000941770 benign Intellectual disability, autosomal dominant 1 2024-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV003380723 SCV004089096 uncertain significance Inborn genetic diseases 2023-09-13 criteria provided, single submitter clinical testing The c.1249A>G (p.M417V) alteration is located in exon 9 (coding exon 4) of the MBD5 gene. This alteration results from a A to G substitution at nucleotide position 1249, causing the methionine (M) at amino acid position 417 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV004584804 SCV005074854 uncertain significance not provided 2024-06-01 criteria provided, single submitter clinical testing MBD5: PM5, BP4

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