ClinVar Miner

Submissions for variant NM_021930.6(RINT1):c.442A>G (p.Met148Val)

dbSNP: rs1790502878
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003237647 SCV002011403 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV004040755 SCV002628146 uncertain significance not specified 2022-04-30 criteria provided, single submitter clinical testing The p.M148V variant (also known as c.442A>G), located in coding exon 4 of the RINT1 gene, results from an A to G substitution at nucleotide position 442. The methionine at codon 148 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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