ClinVar Miner

Submissions for variant NM_000245.4(MET):c.1114G>A (p.Asp372Asn)

dbSNP: rs773200558
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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 RCV000698828 SCV000827516 benign Renal cell carcinoma 2023-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303168 SCV003999618 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-22 criteria provided, single submitter clinical testing The p.D372N variant (also known as c.1114G>A), located in coding exon 1 of the MET gene, results from a G to A substitution at nucleotide position 1114. The aspartic acid at codon 372 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. 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.
Baylor Genetics RCV003465606 SCV004192475 uncertain significance Autosomal recessive nonsyndromic hearing loss 97 2023-10-12 criteria provided, single submitter clinical testing

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