ClinVar Miner

Submissions for variant NM_001377405.1(ATXN7):c.2528C>T (p.Ser843Leu)

gnomAD frequency: 0.00002  dbSNP: rs376606208
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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 RCV002543881 SCV003740816 uncertain significance Inborn genetic diseases 2024-07-16 criteria provided, single submitter clinical testing The c.2528C>T (p.S843L) alteration is located in exon 11 (coding exon 10) of the ATXN7 gene. This alteration results from a C to T substitution at nucleotide position 2528, causing the serine (S) at amino acid position 843 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
O&I group, Department of Genetics, University Medical Center of Groningen RCV001849213 SCV001960855 uncertain significance Spinocerebellar ataxia 7 2021-07-22 no assertion criteria provided research

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