ClinVar Miner

Submissions for variant NM_015702.3(MMADHC):c.638A>G (p.Tyr213Cys)

gnomAD frequency: 0.00004  dbSNP: rs376590291
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002708565 SCV003731701 uncertain significance Inborn genetic diseases 2021-09-16 criteria provided, single submitter clinical testing The c.638A>G (p.Y213C) alteration is located in exon 7 (coding exon 6) of the MMADHC gene. This alteration results from a A to G substitution at nucleotide position 638, causing the tyrosine (Y) at amino acid position 213 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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