ClinVar Miner

Submissions for variant NM_001079673.2(FNDC3A):c.821C>T (p.Ala274Val)

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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 RCV004916633 SCV005581466 uncertain significance not specified 2024-07-02 criteria provided, single submitter clinical testing The c.821C>T (p.A274V) alteration is located in exon 8 (coding exon 7) of the FNDC3A gene. This alteration results from a C to T substitution at nucleotide position 821, causing the alanine (A) at amino acid position 274 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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