ClinVar Miner

Submissions for variant NM_022132.5(MCCC2):c.775G>T (p.Asp259Tyr)

gnomAD frequency: 0.00005  dbSNP: rs191457686
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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 RCV003246826 SCV003939312 uncertain significance Inborn genetic diseases 2023-04-05 criteria provided, single submitter clinical testing The c.775G>T (p.D259Y) alteration is located in exon 8 (coding exon 8) of the MCCC2 gene. This alteration results from a G to T substitution at nucleotide position 775, causing the aspartic acid (D) at amino acid position 259 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001279169 SCV001466251 uncertain significance Methylcrotonyl-CoA carboxylase deficiency 2020-09-25 no assertion criteria provided clinical testing

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