ClinVar Miner

Submissions for variant NM_006946.4(SPTBN2):c.1482G>T (p.Glu494Asp)

gnomAD frequency: 0.00030  dbSNP: rs372109002
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000917341 SCV001062616 likely benign not provided 2022-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029409 SCV004957105 uncertain significance Inborn genetic diseases 2023-11-14 criteria provided, single submitter clinical testing The c.1482G>T (p.E494D) alteration is located in exon 12 (coding exon 11) of the SPTBN2 gene. This alteration results from a G to T substitution at nucleotide position 1482, causing the glutamic acid (E) at amino acid position 494 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702520 SCV005203091 uncertain significance not specified 2024-07-09 criteria provided, single submitter clinical testing Variant summary: SPTBN2 c.1482G>T (p.Glu494Asp) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 6.6e-05 in 242396 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in SPTBN2 causing Spinocerebellar Ataxia 5, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.1482G>T in individuals affected with Spinocerebellar Ataxia 5 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 741207). Based on the evidence outlined above, the variant was classified as uncertain significance.

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