ClinVar Miner

Submissions for variant NM_001351288.2(MGAT4C):c.1345A>G (p.Ile449Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004190864 SCV003686608 uncertain significance not specified 2022-10-26 criteria provided, single submitter clinical testing The c.1345A>G (p.I449V) alteration is located in exon 7 (coding exon 3) of the MGAT4C gene. This alteration results from a A to G substitution at nucleotide position 1345, causing the isoleucine (I) at amino acid position 449 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003410215 SCV004135533 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing MGAT4C: BP4, BS2

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