ClinVar Miner

Submissions for variant NM_000440.3(PDE6A):c.1928G>T (p.Ser643Ile)

gnomAD frequency: 0.00003  dbSNP: rs578228152
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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 RCV001999144 SCV002284885 uncertain significance not provided 2022-09-27 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1495131). This variant has not been reported in the literature in individuals affected with PDE6A-related conditions. This variant is present in population databases (rs578228152, gnomAD 0.08%). This sequence change replaces serine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 643 of the PDE6A protein (p.Ser643Ile).
Ambry Genetics RCV004045462 SCV005003361 uncertain significance Inborn genetic diseases 2023-09-22 criteria provided, single submitter clinical testing The c.1928G>T (p.S643I) alteration is located in exon 16 (coding exon 16) of the PDE6A gene. This alteration results from a G to T substitution at nucleotide position 1928, causing the serine (S) at amino acid position 643 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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