ClinVar Miner

Submissions for variant NM_139125.4(MASP1):c.1927G>A (p.Val643Ile)

gnomAD frequency: 0.00004  dbSNP: rs765808321
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003438647 SCV004149558 uncertain significance not provided 2023-09-01 criteria provided, single submitter clinical testing MASP1: PM2
Ambry Genetics RCV004639426 SCV005135389 uncertain significance Inborn genetic diseases 2024-03-25 criteria provided, single submitter clinical testing The c.1927G>A (p.V643I) alteration is located in exon 11 (coding exon 11) of the MASP1 gene. This alteration results from a G to A substitution at nucleotide position 1927, causing the valine (V) at amino acid position 643 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV003438647 SCV005189923 uncertain significance not provided criteria provided, single submitter not provided
Genetics and Genomics Program, Sidra Medicine RCV001199400 SCV001134951 uncertain significance Hypertrophic cardiomyopathy no assertion criteria provided research

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