ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.586A>C (p.Thr196Pro)

dbSNP: rs2143808215
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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 RCV002998567 SCV003722884 uncertain significance Inborn genetic diseases 2021-10-05 criteria provided, single submitter clinical testing The c.586A>C (p.T196P) alteration is located in exon 1 (coding exon 1) of the MAF gene. This alteration results from a A to C substitution at nucleotide position 586, causing the threonine (T) at amino acid position 196 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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