ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.1821C>T (p.Gly607=) (rs771085157)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186794 SCV000240363 uncertain significance not provided 2016-10-11 criteria provided, single submitter clinical testing p.Gly607Gly (GGC>GGT): c.1821 C>T in exon 13 of the ATP1A2 gene (NM_000702.3). The c.1821 C>T nucleotide substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project did not identify c.1821 C>T in approximately 6500 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. Multiple in silico models predict that the c.1821 C>T substitution could potentially create a new cryptic splice donor site that may supplant the natural site in exon 13 and lead to abnormal splicing. However, in the absence of RNA/functional and clinical studies, the actual effect of the c.1821 C>T sequence change is unknown. The variant is found in EPILEPSY panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000391498 SCV000349906 uncertain significance Alternating hemiplegia of childhood 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301618 SCV000349907 uncertain significance Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000301618 SCV000821184 uncertain significance Familial hemiplegic migraine 2018-07-24 criteria provided, single submitter clinical testing This sequence change affects codon 607 of the ATP1A2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATP1A2 protein. This variant is present in population databases (rs771085157, ExAC 0.009%). This variant has not been reported in the literature in individuals with ATP1A2-related disease. ClinVar contains an entry for this variant (Variation ID: 204892). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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