ClinVar Miner

Submissions for variant NM_014467.3(SRPX2):c.751G>A (p.Ala251Thr)

dbSNP: rs746147592
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189570 SCV000243213 uncertain significance not provided 2013-06-17 criteria provided, single submitter clinical testing p.Ala251Thr (GCC>ACC): c.751 G>A in exon 7 of the SRPX2 gene (NM_014467.2) The Ala251Thr missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 5,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The amino acid substitution is non-conservative, as a non-polar Alanine residue is replaced by a polar Threonine residue. It alters a highly conserved position in the HYR domain, and multiple in silico algorithms predict that Ala251Thr may be damaging to protein structure/function. However, missense mutations have not been reported previously in this region of the protein. Therefore, based on the currently available information, it is unclear whether Ala251Thr is a disease-causing mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).

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