ClinVar Miner

Submissions for variant NM_000554.6(CRX):c.491G>A (p.Ser164Asn)

gnomAD frequency: 0.00004  dbSNP: rs1039194669
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001065467 SCV001230425 uncertain significance Leber congenital amaurosis 7; Cone-rod dystrophy 2 2022-07-12 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 859372). This variant has not been reported in the literature in individuals affected with CRX-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 164 of the CRX protein (p.Ser164Asn).
Ambry Genetics RCV002555842 SCV003569670 uncertain significance Inborn genetic diseases 2021-08-04 criteria provided, single submitter clinical testing The c.491G>A (p.S164N) alteration is located in exon 4 (coding exon 3) of the CRX gene. This alteration results from a G to A substitution at nucleotide position 491, causing the serine (S) at amino acid position 164 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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