ClinVar Miner

Submissions for variant NM_170675.5(MEIS2):c.520C>T (p.Arg174Ter)

dbSNP: rs1555471981
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001696962 SCV000681066 pathogenic not provided 2018-09-14 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 30735726)
Ambry Genetics RCV003159975 SCV003887559 pathogenic Inborn genetic diseases 2023-01-25 criteria provided, single submitter clinical testing The c.520C>T (p.R174*) alteration, located in exon 6 (coding exon 6) of the MEIS2 gene, consists of a C to T substitution at nucleotide position 520. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 174. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been reported to be de novo in one individual with cardiac defects, intellectual disability, dysmorphic facial features, and gastroesophageal reflux (Giliberti, 2020). Based on the available evidence, this alteration is classified as pathogenic.
Genomic Medicine Lab, University of California San Francisco RCV004001218 SCV004847166 pathogenic Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies 2023-04-27 criteria provided, single submitter clinical testing

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