ClinVar Miner

Submissions for variant NM_001286445.3(RIPOR2):c.2084C>T (p.Ala695Val)

gnomAD frequency: 0.00003  dbSNP: rs746238109
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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 RCV004347700 SCV004065562 uncertain significance not specified 2023-07-30 criteria provided, single submitter clinical testing The c.2147C>T (p.A716V) alteration is located in exon 16 (coding exon 15) of the FAM65B gene. This alteration results from a C to T substitution at nucleotide position 2147, causing the alanine (A) at amino acid position 716 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004723283 SCV005334323 uncertain significance not provided 2023-03-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)

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