ClinVar Miner

Submissions for variant NM_173651.4(FSIP2):c.14560A>G (p.Met4854Val)

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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 RCV004928109 SCV005590984 uncertain significance not specified 2024-10-09 criteria provided, single submitter clinical testing The c.14827A>G (p.M4943V) alteration is located in exon 17 (coding exon 17) of the FSIP2 gene. This alteration results from a A to G substitution at nucleotide position 14827, causing the methionine (M) at amino acid position 4943 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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