ClinVar Miner

Submissions for variant NM_182700.6(SP8):c.100C>G (p.Pro34Ala)

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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 RCV004239139 SCV003747395 uncertain significance not specified 2022-03-16 criteria provided, single submitter clinical testing The c.100C>G (p.P34A) alteration is located in exon 2 (coding exon 2) of the SP8 gene. This alteration results from a C to G substitution at nucleotide position 100, causing the proline (P) at amino acid position 34 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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