ClinVar Miner

Submissions for variant NM_021647.8(MFAP3L):c.721G>A (p.Val241Met)

gnomAD frequency: 0.00001  dbSNP: rs200379070
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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 RCV004098229 SCV003558133 uncertain significance not specified 2021-07-09 criteria provided, single submitter clinical testing The c.721G>A (p.V241M) alteration is located in exon 3 (coding exon 2) of the MFAP3L gene. This alteration results from a G to A substitution at nucleotide position 721, causing the valine (V) at amino acid position 241 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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