ClinVar Miner

Submissions for variant NM_020166.5(MCCC1):c.314A>G (p.Gln105Arg)

gnomAD frequency: 0.00001  dbSNP: rs746430473
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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 RCV004035450 SCV004903537 uncertain significance Inborn genetic diseases 2024-02-06 criteria provided, single submitter clinical testing The c.314A>G (p.Q105R) alteration is located in exon 4 (coding exon 4) of the MCCC1 gene. This alteration results from a A to G substitution at nucleotide position 314, causing the glutamine (Q) at amino acid position 105 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001277565 SCV001464525 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-08-25 no assertion criteria provided clinical testing

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