ClinVar Miner

Submissions for variant NM_016955.4(SEPSECS):c.823A>G (p.Ile275Val)

dbSNP: rs746824533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001579254 SCV001806713 uncertain significance Pontocerebellar hypoplasia type 2D 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004656631 SCV005159860 uncertain significance Inborn genetic diseases 2024-05-20 criteria provided, single submitter clinical testing The c.823A>G (p.I275V) alteration is located in exon 7 (coding exon 7) of the SEPSECS gene. This alteration results from a A to G substitution at nucleotide position 823, causing the isoleucine (I) at amino acid position 275 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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