ClinVar Miner

Submissions for variant NM_173689.7(CRB2):c.974C>T (p.Ala325Val)

gnomAD frequency: 0.00001  dbSNP: rs867898611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001342686 SCV001536631 uncertain significance not provided 2020-02-26 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 325 of the CRB2 protein (p.Ala325Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CRB2-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004978367 SCV005562694 uncertain significance Inborn genetic diseases 2024-10-29 criteria provided, single submitter clinical testing The c.974C>T (p.A325V) alteration is located in exon 6 (coding exon 6) of the CRB2 gene. This alteration results from a C to T substitution at nucleotide position 974, causing the alanine (A) at amino acid position 325 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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