ClinVar Miner

Submissions for variant NM_000245.4(MET):c.821T>C (p.Phe274Ser)

gnomAD frequency: 0.00001  dbSNP: rs758569834
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001027297 SCV001189832 uncertain significance Hereditary cancer-predisposing syndrome 2024-05-24 criteria provided, single submitter clinical testing The p.F274S variant (also known as c.821T>C), located in coding exon 1 of the MET gene, results from a T to C substitution at nucleotide position 821. The phenylalanine at codon 274 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001207075 SCV001378414 likely benign Renal cell carcinoma 2024-01-25 criteria provided, single submitter clinical testing
GeneDx RCV001776091 SCV002012932 uncertain significance not provided 2024-04-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV004570082 SCV005057870 uncertain significance Autosomal recessive nonsyndromic hearing loss 97 2024-02-11 criteria provided, single submitter clinical testing

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