ClinVar Miner

Submissions for variant NM_004820.5(CYP7B1):c.953T>G (p.Val318Gly)

dbSNP: rs752671180
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000730179 SCV000857896 uncertain significance not provided 2017-11-13 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV001849086 SCV002104566 uncertain significance Hereditary spastic paraplegia 2021-10-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002535144 SCV003718623 uncertain significance Inborn genetic diseases 2022-06-24 criteria provided, single submitter clinical testing The c.953T>G (p.V318G) alteration is located in exon 4 (coding exon 4) of the CYP7B1 gene. This alteration results from a T to G substitution at nucleotide position 953, causing the valine (V) at amino acid position 318 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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