ClinVar Miner

Submissions for variant NM_022367.4(SEMA4A):c.394G>A (p.Val132Ile)

gnomAD frequency: 0.00001  dbSNP: rs374333337
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001948077 SCV002190668 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 132 of the SEMA4A protein (p.Val132Ile). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SEMA4A protein function. ClinVar contains an entry for this variant (Variation ID: 1417181). This variant has not been reported in the literature in individuals affected with SEMA4A-related conditions. This variant is present in population databases (rs374333337, gnomAD 0.0009%).
Ambry Genetics RCV004043566 SCV003673562 uncertain significance not specified 2022-12-01 criteria provided, single submitter clinical testing The c.394G>A (p.V132I) alteration is located in exon 5 (coding exon 4) of the SEMA4A gene. This alteration results from a G to A substitution at nucleotide position 394, causing the valine (V) at amino acid position 132 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Genome-Nilou Lab RCV003348628 SCV004050519 uncertain significance Cone-rod dystrophy 10 2023-04-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003348627 SCV004050521 uncertain significance Retinitis pigmentosa 35 2023-04-11 criteria provided, single submitter clinical testing

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