ClinVar Miner

Submissions for variant NM_144635.5(FAM131A):c.199C>T (p.Pro67Ser)

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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 RCV005341296 SCV006004868 uncertain significance not specified 2024-12-31 criteria provided, single submitter clinical testing The c.199C>T (p.P67S) alteration is located in exon 2 (coding exon 2) of the FAM131A gene. This alteration results from a C to T substitution at nucleotide position 199, causing the proline (P) at amino acid position 67 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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