ClinVar Miner

Submissions for variant NM_004830.4(MED23):c.1708T>G (p.Leu570Val)

dbSNP: rs1775691162
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332522 SCV001524871 uncertain significance Intellectual disability, autosomal recessive 18 2019-11-07 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546573 SCV003593532 uncertain significance Inborn genetic diseases 2022-05-25 criteria provided, single submitter clinical testing The c.1726T>G (p.L576V) alteration is located in exon 16 (coding exon 16) of the MED23 gene. This alteration results from a T to G substitution at nucleotide position 1726, causing the leucine (L) at amino acid position 576 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692559 SCV005189243 uncertain significance not provided criteria provided, single submitter not provided

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