ClinVar Miner

Submissions for variant NM_004320.6(ATP2A1):c.2414C>T (p.Thr805Ile)

gnomAD frequency: 0.00001  dbSNP: rs778571371
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000823484 SCV000964345 uncertain significance Brody myopathy 2018-11-07 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 805 of the ATP2A1 protein (p.Thr805Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs778571371, ExAC 0.006%). This variant has not been reported in the literature in individuals with ATP2A1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Ambry Genetics RCV002535987 SCV003646860 uncertain significance Inborn genetic diseases 2022-10-12 criteria provided, single submitter clinical testing The c.2414C>T (p.T805I) alteration is located in exon 17 (coding exon 17) of the ATP2A1 gene. This alteration results from a C to T substitution at nucleotide position 2414, causing the threonine (T) at amino acid position 805 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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