ClinVar Miner

Submissions for variant NM_000254.3(MTR):c.1855G>C (p.Val619Leu)

gnomAD frequency: 0.00014  dbSNP: rs557853306
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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 RCV001940808 SCV002213972 likely benign Methylcobalamin deficiency type cblG 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004042011 SCV005009584 uncertain significance Inborn genetic diseases 2023-12-14 criteria provided, single submitter clinical testing The c.1855G>C (p.V619L) alteration is located in exon 18 (coding exon 18) of the MTR gene. This alteration results from a G to C substitution at nucleotide position 1855, causing the valine (V) at amino acid position 619 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004784014 SCV005396910 uncertain significance not provided 2024-05-02 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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