ClinVar Miner

Submissions for variant NM_005360.5(MAF):c.487G>A (p.Val163Met)

gnomAD frequency: 0.00001  dbSNP: rs1913845255
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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 RCV002786863 SCV003579143 uncertain significance Inborn genetic diseases 2021-11-08 criteria provided, single submitter clinical testing The c.487G>A (p.V163M) 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 487, causing the valine (V) at amino acid position 163 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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