ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.604G>A (p.Ala202Thr)

dbSNP: rs1206789868
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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 RCV002864816 SCV003624573 uncertain significance Inborn genetic diseases 2022-07-08 criteria provided, single submitter clinical testing The c.604G>A (p.A202T) alteration is located in exon 1 (coding exon 1) of the MAF gene. This alteration results from a G to A substitution at nucleotide position 604, causing the alanine (A) at amino acid position 202 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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