ClinVar Miner

Submissions for variant NM_021801.5(MMP26):c.395G>A (p.Ser132Asn)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004067543 SCV003754774 uncertain significance not specified 2021-07-06 criteria provided, single submitter clinical testing The c.395G>A (p.S132N) alteration is located in exon 3 (coding exon 3) of the MMP26 gene. This alteration results from a G to A substitution at nucleotide position 395, causing the serine (S) at amino acid position 132 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine RCV002463916 SCV002758687 uncertain significance Myoepithelial tumor 2022-11-01 no assertion criteria provided research

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