ClinVar Miner

Submissions for variant NM_002641.4(PIGA):c.955G>A (p.Val319Met)

dbSNP: rs765961204
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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 RCV002316710 SCV000850360 uncertain significance Inborn genetic diseases 2018-08-08 criteria provided, single submitter clinical testing The p.V319M variant (also known as c.955G>A), located in coding exon 3 of the PIGA gene, results from a G to A substitution at nucleotide position 955. The valine at codon 319 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Mendelics RCV000990473 SCV001141475 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 2 2019-05-28 criteria provided, single submitter clinical testing

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