ClinVar Miner

Submissions for variant NM_001079673.2(FNDC3A):c.1712C>T (p.Ser571Leu)

gnomAD frequency: 0.00001  dbSNP: rs375462764
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004091729 SCV003559047 uncertain significance not specified 2021-08-02 criteria provided, single submitter clinical testing The c.1712C>T (p.S571L) alteration is located in exon 15 (coding exon 14) of the FNDC3A gene. This alteration results from a C to T substitution at nucleotide position 1712, causing the serine (S) at amino acid position 571 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004695396 SCV005192146 uncertain significance not provided criteria provided, single submitter not provided

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