ClinVar Miner

Submissions for variant NM_182700.6(SP8):c.451G>C (p.Val151Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004457806 SCV004957745 uncertain significance not specified 2024-01-04 criteria provided, single submitter clinical testing The c.451G>C (p.V151L) alteration is located in exon 2 (coding exon 2) of the SP8 gene. This alteration results from a G to C substitution at nucleotide position 451, causing the valine (V) at amino acid position 151 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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