ClinVar Miner

Submissions for variant NM_001145784.2(BORCS8):c.85T>C (p.Ser29Pro)

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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 RCV004244314 SCV003757984 uncertain significance not specified 2022-06-30 criteria provided, single submitter clinical testing The c.85T>C (p.S29P) alteration is located in exon 2 (coding exon 2) of the BORCS8 gene. This alteration results from a T to C substitution at nucleotide position 85, causing the serine (S) at amino acid position 29 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
OMIM RCV004765381 SCV005375276 pathogenic NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY AND BRAIN ABNORMALITIES 2024-10-18 no assertion criteria provided literature only

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