ClinVar Miner

Submissions for variant NM_005374.5(MPP2):c.1310T>C (p.Val437Ala)

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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 RCV004828517 SCV005450566 uncertain significance not specified 2024-08-10 criteria provided, single submitter clinical testing The c.1310T>C (p.V437A) alteration is located in exon 11 (coding exon 10) of the MPP2 gene. This alteration results from a T to C substitution at nucleotide position 1310, causing the valine (V) at amino acid position 437 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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